SNP Links for Protein (Select 4502013) - SNP

Links from Protein

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Select item 14915457331.

rs1491545733 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:33021391 (GRCh38)
1:33486993 (GRCh37)
Canonical SPDI:: NC_000001.11:33021391:G:GG
Gene:: AK2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.33021392dup, NC_000001.10:g.33486993dup, NG_016269.1:g.20500dup, NM_013411.5:c.400dup, NM_013411.4:c.400dup, NM_001625.4:c.400dup, NM_001625.3:c.400dup, NM_001319139.3:c.256dup, NM_001319139.2:c.256dup, NM_001319139.1:c.256dup, NM_001319141.3:c.400dup, NM_001319141.2:c.400dup, NM_001319141.1:c.400dup, NM_001199199.3:c.400dup, NM_001199199.2:c.400dup, NM_001199199.1:c.400dup, NM_001319142.3:c.274dup, NM_001319142.2:c.274dup, NM_001319142.1:c.274dup, NM_001319140.2:c.256dup, NM_001319140.1:c.256dup, NR_037591.1:n.601dup, NR_037592.1:n.601dup, NM_172199.1:c.400dup, NP_037543.1:p.Leu134fs, NP_001616.1:p.Leu134fs, NP_001306068.1:p.Leu86fs, NP_001306070.1:p.Leu134fs, NP_001186128.1:p.Leu134fs, NP_001306071.1:p.Leu92fs, NP_001306069.1:p.Leu86fs

Select item 14914816122.

rs1491481612 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:33021395 (GRCh38)
1:33486996 (GRCh37)
Canonical SPDI:: NC_000001.11:33021390:AGAGAG:AGAG
Gene:: AK2 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0.000109/3 (ALFA)
-=0.000012/3 (GnomAD_exomes)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.33021391AG[2], NC_000001.10:g.33486992AG[2], NG_016269.1:g.20496CT[2], NM_013411.5:c.400_401del, NM_013411.4:c.400_401del, NM_001625.4:c.400_401del, NM_001625.3:c.400_401del, NM_001319139.3:c.256_257del, NM_001319139.2:c.256_257del, NM_001319139.1:c.256_257del, NM_001319141.3:c.400_401del, NM_001319141.2:c.400_401del, NM_001319141.1:c.400_401del, NM_001199199.3:c.400_401del, NM_001199199.2:c.400_401del, NM_001199199.1:c.400_401del, NM_001319142.3:c.274_275del, NM_001319142.2:c.274_275del, NM_001319142.1:c.274_275del, NM_001319140.2:c.256_257del, NM_001319140.1:c.256_257del, NR_037591.1:n.597CT[2], NR_037592.1:n.597CT[2], NM_172199.1:c.400_401del, NP_037543.1:p.Leu134fs, NP_001616.1:p.Leu134fs, NP_001306068.1:p.Leu86fs, NP_001306070.1:p.Leu134fs, NP_001186128.1:p.Leu134fs, NP_001306071.1:p.Leu92fs, NP_001306069.1:p.Leu86fs

Select item 14863485123.

rs1486348512 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:33024513 (GRCh38)
1:33490114 (GRCh37)
Canonical SPDI:: NC_000001.11:33024512:G:C
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000001.11:g.33024513G>C, NC_000001.10:g.33490114G>C, NG_016269.1:g.17379C>G, NM_013411.5:c.148C>G, NM_013411.4:c.148C>G, NM_001625.4:c.148C>G, NM_001625.3:c.148C>G, NM_001319139.3:c.4C>G, NM_001319139.2:c.4C>G, NM_001319139.1:c.4C>G, NM_001319141.3:c.148C>G, NM_001319141.2:c.148C>G, NM_001319141.1:c.148C>G, NM_001199199.3:c.148C>G, NM_001199199.2:c.148C>G, NM_001199199.1:c.148C>G, NR_134976.3:n.203C>G, NR_134976.2:n.203C>G, NR_134976.1:n.231C>G, NM_001319140.2:c.4C>G, NM_001319140.1:c.4C>G, NM_001319143.2:c.148C>G, NM_001319143.1:c.148C>G, NR_037591.1:n.349C>G, NR_037592.1:n.349C>G, NM_172199.1:c.148C>G, NP_037543.1:p.Leu50Val, NP_001616.1:p.Leu50Val, NP_001306068.1:p.Leu2Val, NP_001306070.1:p.Leu50Val, NP_001186128.1:p.Leu50Val, NP_001306069.1:p.Leu2Val, NP_001306072.1:p.Leu50Val

Select item 14858922494.

rs1485892249 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:33014570 (GRCh38)
1:33480171 (GRCh37)
Canonical SPDI:: NC_000001.11:33014569:A:C
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000012/3 (GnomAD_exomes)
C=0.001638/3 (Korea1K)
HGVS:: NC_000001.11:g.33014570A>C, NC_000001.10:g.33480171A>C, NG_016269.1:g.27322T>G, NM_013411.5:c.450T>G, NM_013411.4:c.450T>G, NM_001625.4:c.450T>G, NM_001625.3:c.450T>G, NM_001319139.3:c.306T>G, NM_001319139.2:c.306T>G, NM_001319139.1:c.306T>G, NM_001319141.3:c.450T>G, NM_001319141.2:c.450T>G, NM_001319141.1:c.450T>G, NM_001199199.3:c.426T>G, NM_001199199.2:c.426T>G, NM_001199199.1:c.426T>G, NR_134976.3:n.410T>G, NR_134976.2:n.410T>G, NR_134976.1:n.438T>G, NM_001319142.3:c.324T>G, NM_001319142.2:c.324T>G, NM_001319142.1:c.324T>G, NM_001319140.2:c.306T>G, NM_001319140.1:c.306T>G, NM_001319143.2:c.355T>G, NM_001319143.1:c.355T>G, NR_037591.1:n.651T>G, NR_037592.1:n.651T>G, NM_172199.1:c.450T>G, NP_001306072.1:p.Phe119Val

Select item 14854361075.

rs1485436107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:33021452 (GRCh38)
1:33487053 (GRCh37)
Canonical SPDI:: NC_000001.11:33021451:G:A
Gene:: AK2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.33021452G>A, NC_000001.10:g.33487053G>A, NG_016269.1:g.20440C>T, NM_013411.5:c.340C>T, NM_013411.4:c.340C>T, NM_001625.4:c.340C>T, NM_001625.3:c.340C>T, NM_001319139.3:c.196C>T, NM_001319139.2:c.196C>T, NM_001319139.1:c.196C>T, NM_001319141.3:c.340C>T, NM_001319141.2:c.340C>T, NM_001319141.1:c.340C>T, NM_001199199.3:c.340C>T, NM_001199199.2:c.340C>T, NM_001199199.1:c.340C>T, NM_001319142.3:c.214C>T, NM_001319142.2:c.214C>T, NM_001319142.1:c.214C>T, NM_001319140.2:c.196C>T, NM_001319140.1:c.196C>T, NR_037591.1:n.541C>T, NR_037592.1:n.541C>T, NM_172199.1:c.340C>T, NP_037543.1:p.Leu114Phe, NP_001616.1:p.Leu114Phe, NP_001306068.1:p.Leu66Phe, NP_001306070.1:p.Leu114Phe, NP_001186128.1:p.Leu114Phe, NP_001306071.1:p.Leu72Phe, NP_001306069.1:p.Leu66Phe

Select item 14834720376.

rs1483472037 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:33036764 (GRCh38)
1:33502365 (GRCh37)
Canonical SPDI:: NC_000001.11:33036763:C:A
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.33036764C>A, NC_000001.10:g.33502365C>A, NG_016269.1:g.5128G>T, NM_013411.5:c.65G>T, NM_013411.4:c.65G>T, NM_001625.4:c.65G>T, NM_001625.3:c.65G>T, NM_001319139.3:c.-198G>T, NM_001319139.2:c.-198G>T, NM_001319139.1:c.-198G>T, NM_001319141.3:c.65G>T, NM_001319141.2:c.65G>T, NM_001319141.1:c.65G>T, NM_001199199.3:c.65G>T, NM_001199199.2:c.65G>T, NM_001199199.1:c.65G>T, NR_134976.3:n.120G>T, NR_134976.2:n.120G>T, NR_134976.1:n.148G>T, NM_001319142.3:c.65G>T, NM_001319142.2:c.65G>T, NM_001319142.1:c.65G>T, NM_001319140.2:c.-198G>T, NM_001319140.1:c.-198G>T, NM_001319143.2:c.65G>T, NM_001319143.1:c.65G>T, NR_037591.1:n.148G>T, NR_037592.1:n.148G>T, NM_172199.1:c.65G>T, NP_037543.1:p.Gly22Val, NP_001616.1:p.Gly22Val, NP_001306070.1:p.Gly22Val, NP_001186128.1:p.Gly22Val, NP_001306071.1:p.Gly22Val, NP_001306072.1:p.Gly22Val

Select item 14766806737.

rs1476680673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:33021383 (GRCh38)
1:33486984 (GRCh37)
Canonical SPDI:: NC_000001.11:33021382:G:A
Gene:: AK2 (Varview)
Functional Consequence:: stop_gained,intron_variant,coding_sequence_variant
Clinical significance:: pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00006/1 (TOMMO)
HGVS:: NC_000001.11:g.33021383G>A, NC_000001.10:g.33486984G>A, NG_016269.1:g.20509C>T, NM_013411.5:c.409C>T, NM_013411.4:c.409C>T, NM_001625.4:c.409C>T, NM_001625.3:c.409C>T, NM_001319139.3:c.265C>T, NM_001319139.2:c.265C>T, NM_001319139.1:c.265C>T, NM_001319141.3:c.409C>T, NM_001319141.2:c.409C>T, NM_001319141.1:c.409C>T, NM_001319142.3:c.283C>T, NM_001319142.2:c.283C>T, NM_001319142.1:c.283C>T, NM_001319140.2:c.265C>T, NM_001319140.1:c.265C>T, NR_037591.1:n.610C>T, NR_037592.1:n.610C>T, NM_172199.1:c.409C>T, NP_037543.1:p.Arg137Ter, NP_001616.1:p.Arg137Ter, NP_001306068.1:p.Arg89Ter, NP_001306070.1:p.Arg137Ter, NP_001306071.1:p.Arg95Ter, NP_001306069.1:p.Arg89Ter

Select item 14756720558.

rs1475672055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G,T [Show Flanks]
Chromosome:: 1:33024451 (GRCh38)
1:33490052 (GRCh37)
Canonical SPDI:: NC_000001.11:33024450:A:C,NC_000001.11:33024450:A:G,NC_000001.11:33024450:A:T
Gene:: AK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.33024451A>C, NC_000001.11:g.33024451A>G, NC_000001.11:g.33024451A>T, NC_000001.10:g.33490052A>C, NC_000001.10:g.33490052A>G, NC_000001.10:g.33490052A>T, NG_016269.1:g.17441T>G, NG_016269.1:g.17441T>C, NG_016269.1:g.17441T>A, NM_013411.5:c.210T>G, NM_013411.5:c.210T>C, NM_013411.5:c.210T>A, NM_013411.4:c.210T>G, NM_013411.4:c.210T>C, NM_013411.4:c.210T>A, NM_001625.4:c.210T>G, NM_001625.4:c.210T>C, NM_001625.4:c.210T>A, NM_001625.3:c.210T>G, NM_001625.3:c.210T>C, NM_001625.3:c.210T>A, NM_001319139.3:c.66T>G, NM_001319139.3:c.66T>C, NM_001319139.3:c.66T>A, NM_001319139.2:c.66T>G, NM_001319139.2:c.66T>C, NM_001319139.2:c.66T>A, NM_001319139.1:c.66T>G, NM_001319139.1:c.66T>C, NM_001319139.1:c.66T>A, NM_001319141.3:c.210T>G, NM_001319141.3:c.210T>C, NM_001319141.3:c.210T>A, NM_001319141.2:c.210T>G, NM_001319141.2:c.210T>C, NM_001319141.2:c.210T>A, NM_001319141.1:c.210T>G, NM_001319141.1:c.210T>C, NM_001319141.1:c.210T>A, NM_001199199.3:c.210T>G, NM_001199199.3:c.210T>C, NM_001199199.3:c.210T>A, NM_001199199.2:c.210T>G, NM_001199199.2:c.210T>C, NM_001199199.2:c.210T>A, NM_001199199.1:c.210T>G, NM_001199199.1:c.210T>C, NM_001199199.1:c.210T>A, NR_134976.3:n.265T>G, NR_134976.3:n.265T>C, NR_134976.3:n.265T>A, NR_134976.2:n.265T>G, NR_134976.2:n.265T>C, NR_134976.2:n.265T>A, NR_134976.1:n.293T>G, NR_134976.1:n.293T>C, NR_134976.1:n.293T>A, NM_001319140.2:c.66T>G, NM_001319140.2:c.66T>C, NM_001319140.2:c.66T>A, NM_001319140.1:c.66T>G, NM_001319140.1:c.66T>C, NM_001319140.1:c.66T>A, NM_001319143.2:c.210T>G, NM_001319143.2:c.210T>C, NM_001319143.2:c.210T>A, NM_001319143.1:c.210T>G, NM_001319143.1:c.210T>C, NM_001319143.1:c.210T>A, NR_037591.1:n.411T>G, NR_037591.1:n.411T>C, NR_037591.1:n.411T>A, NR_037592.1:n.411T>G, NR_037592.1:n.411T>C, NR_037592.1:n.411T>A, NM_172199.1:c.210T>G, NM_172199.1:c.210T>C, NM_172199.1:c.210T>A

Select item 14745035049.

rs1474503504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:33021381 (GRCh38)
1:33486982 (GRCh37)
Canonical SPDI:: NC_000001.11:33021380:T:C
Gene:: AK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.33021381T>C, NC_000001.10:g.33486982T>C, NG_016269.1:g.20511A>G, NM_013411.5:c.411A>G, NM_013411.4:c.411A>G, NM_001625.4:c.411A>G, NM_001625.3:c.411A>G, NM_001319139.3:c.267A>G, NM_001319139.2:c.267A>G, NM_001319139.1:c.267A>G, NM_001319141.3:c.411A>G, NM_001319141.2:c.411A>G, NM_001319141.1:c.411A>G, NM_001319142.3:c.285A>G, NM_001319142.2:c.285A>G, NM_001319142.1:c.285A>G, NM_001319140.2:c.267A>G, NM_001319140.1:c.267A>G, NR_037591.1:n.612A>G, NR_037592.1:n.612A>G, NM_172199.1:c.411A>G

Select item 147438663210.

rs1474386632 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:33036779 (GRCh38)
1:33502380 (GRCh37)
Canonical SPDI:: NC_000001.11:33036778:C:T
Gene:: AK2 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.33036779C>T, NC_000001.10:g.33502380C>T, NG_016269.1:g.5113G>A, NM_013411.5:c.50G>A, NM_013411.4:c.50G>A, NM_001625.4:c.50G>A, NM_001625.3:c.50G>A, NM_001319139.3:c.-213G>A, NM_001319139.2:c.-213G>A, NM_001319139.1:c.-213G>A, NM_001319141.3:c.50G>A, NM_001319141.2:c.50G>A, NM_001319141.1:c.50G>A, NM_001199199.3:c.50G>A, NM_001199199.2:c.50G>A, NM_001199199.1:c.50G>A, NR_134976.3:n.105G>A, NR_134976.2:n.105G>A, NR_134976.1:n.133G>A, NM_001319142.3:c.50G>A, NM_001319142.2:c.50G>A, NM_001319142.1:c.50G>A, NM_001319140.2:c.-213G>A, NM_001319140.1:c.-213G>A, NM_001319143.2:c.50G>A, NM_001319143.1:c.50G>A, NR_037591.1:n.133G>A, NR_037592.1:n.133G>A, NM_172199.1:c.50G>A, NP_037543.1:p.Arg17Gln, NP_001616.1:p.Arg17Gln, NP_001306070.1:p.Arg17Gln, NP_001186128.1:p.Arg17Gln, NP_001306071.1:p.Arg17Gln, NP_001306072.1:p.Arg17Gln

Select item 146907492511.

rs1469074925 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:33021675 (GRCh38)
1:33487276 (GRCh37)
Canonical SPDI:: NC_000001.11:33021674:A:G
Gene:: AK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.33021675A>G, NC_000001.10:g.33487276A>G, NG_016269.1:g.20217T>C, NM_013411.5:c.248T>C, NM_013411.4:c.248T>C, NM_001625.4:c.248T>C, NM_001625.3:c.248T>C, NM_001319139.3:c.104T>C, NM_001319139.2:c.104T>C, NM_001319139.1:c.104T>C, NM_001319141.3:c.248T>C, NM_001319141.2:c.248T>C, NM_001319141.1:c.248T>C, NM_001199199.3:c.248T>C, NM_001199199.2:c.248T>C, NM_001199199.1:c.248T>C, NR_134976.3:n.303T>C, NR_134976.2:n.303T>C, NR_134976.1:n.331T>C, NM_001319142.3:c.122T>C, NM_001319142.2:c.122T>C, NM_001319142.1:c.122T>C, NM_001319140.2:c.104T>C, NM_001319140.1:c.104T>C, NM_001319143.2:c.248T>C, NM_001319143.1:c.248T>C, NR_037591.1:n.449T>C, NR_037592.1:n.449T>C, NM_172199.1:c.248T>C, NP_037543.1:p.Ile83Thr, NP_001616.1:p.Ile83Thr, NP_001306068.1:p.Ile35Thr, NP_001306070.1:p.Ile83Thr, NP_001186128.1:p.Ile83Thr, NP_001306071.1:p.Ile41Thr, NP_001306069.1:p.Ile35Thr, NP_001306072.1:p.Ile83Thr

Select item 146484089512.

rs1464840895 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:33014529 (GRCh38)
1:33480130 (GRCh37)
Canonical SPDI:: NC_000001.11:33014528:T:C
Gene:: AK2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.33014529T>C, NC_000001.10:g.33480130T>C, NG_016269.1:g.27363A>G, NM_013411.5:c.491A>G, NM_013411.4:c.491A>G, NM_001625.4:c.491A>G, NM_001625.3:c.491A>G, NM_001319139.3:c.347A>G, NM_001319139.2:c.347A>G, NM_001319139.1:c.347A>G, NM_001319141.3:c.491A>G, NM_001319141.2:c.491A>G, NM_001319141.1:c.491A>G, NM_001199199.3:c.467A>G, NM_001199199.2:c.467A>G, NM_001199199.1:c.467A>G, NR_134976.3:n.451A>G, NR_134976.2:n.451A>G, NR_134976.1:n.479A>G, NM_001319142.3:c.365A>G, NM_001319142.2:c.365A>G, NM_001319142.1:c.365A>G, NM_001319140.2:c.347A>G, NM_001319140.1:c.347A>G, NM_001319143.2:c.396A>G, NM_001319143.1:c.396A>G, NR_037591.1:n.692A>G, NR_037592.1:n.692A>G, NM_172199.1:c.491A>G, NP_037543.1:p.Lys164Arg, NP_001616.1:p.Lys164Arg, NP_001306068.1:p.Lys116Arg, NP_001306070.1:p.Lys164Arg, NP_001186128.1:p.Lys156Arg, NP_001306071.1:p.Lys122Arg, NP_001306069.1:p.Lys116Arg

Select item 146410454413.

rs1464104544 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:33013190 (GRCh38)
1:33478791 (GRCh37)
Canonical SPDI:: NC_000001.11:33013189:C:T
Gene:: AK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.33013190C>T, NC_000001.10:g.33478791C>T, NG_016269.1:g.28702G>A, NM_001625.4:c.711G>A, NM_001625.3:c.711G>A, NM_001319140.2:c.567G>A, NM_001319140.1:c.567G>A, NM_001319143.2:c.*214G>A, NM_001319143.1:c.*214G>A, NR_037592.1:n.912G>A, NP_001616.1:p.Met237Ile, NP_001306069.1:p.Met189Ile

Select item 145262753214.

rs1452627532 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:33013396 (GRCh38)
1:33478997 (GRCh37)
Canonical SPDI:: NC_000001.11:33013395:C:T
Gene:: AK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,3_prime_UTR_variant,non_coding_transcript_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.33013396C>T, NC_000001.10:g.33478997C>T, NG_016269.1:g.28496G>A, NM_013411.5:c.505G>A, NM_013411.4:c.505G>A, NM_001625.4:c.505G>A, NM_001625.3:c.505G>A, NM_001319139.3:c.361G>A, NM_001319139.2:c.361G>A, NM_001319139.1:c.361G>A, NM_001319141.3:c.505G>A, NM_001319141.2:c.505G>A, NM_001319141.1:c.505G>A, NM_001199199.3:c.481G>A, NM_001199199.2:c.481G>A, NM_001199199.1:c.481G>A, NR_134976.3:n.465G>A, NR_134976.2:n.465G>A, NR_134976.1:n.493G>A, NM_001319142.3:c.379G>A, NM_001319142.2:c.379G>A, NM_001319142.1:c.379G>A, NM_001319140.2:c.361G>A, NM_001319140.1:c.361G>A, NM_001319143.2:c.*8G>A, NM_001319143.1:c.*8G>A, NR_037591.1:n.706G>A, NR_037592.1:n.706G>A, NM_172199.1:c.505G>A, NP_037543.1:p.Gly169Arg, NP_001616.1:p.Gly169Arg, NP_001306068.1:p.Gly121Arg, NP_001306070.1:p.Gly169Arg, NP_001186128.1:p.Gly161Arg, NP_001306071.1:p.Gly127Arg, NP_001306069.1:p.Gly121Arg

Select item 145107856615.

rs1451078566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:33036816 (GRCh38)
1:33502417 (GRCh37)
Canonical SPDI:: NC_000001.11:33036815:C:A,NC_000001.11:33036815:C:T
Gene:: AK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.33036816C>A, NC_000001.11:g.33036816C>T, NC_000001.10:g.33502417C>A, NC_000001.10:g.33502417C>T, NG_016269.1:g.5076G>T, NG_016269.1:g.5076G>A, NM_013411.5:c.13G>T, NM_013411.5:c.13G>A, NM_013411.4:c.13G>T, NM_013411.4:c.13G>A, NM_001625.4:c.13G>T, NM_001625.4:c.13G>A, NM_001625.3:c.13G>T, NM_001625.3:c.13G>A, NM_001319139.3:c.-250G>T, NM_001319139.3:c.-250G>A, NM_001319139.2:c.-250G>T, NM_001319139.2:c.-250G>A, NM_001319139.1:c.-250G>T, NM_001319139.1:c.-250G>A, NM_001319141.3:c.13G>T, NM_001319141.3:c.13G>A, NM_001319141.2:c.13G>T, NM_001319141.2:c.13G>A, NM_001319141.1:c.13G>T, NM_001319141.1:c.13G>A, NM_001199199.3:c.13G>T, NM_001199199.3:c.13G>A, NM_001199199.2:c.13G>T, NM_001199199.2:c.13G>A, NM_001199199.1:c.13G>T, NM_001199199.1:c.13G>A, NR_134976.3:n.68G>T, NR_134976.3:n.68G>A, NR_134976.2:n.68G>T, NR_134976.2:n.68G>A, NR_134976.1:n.96G>T, NR_134976.1:n.96G>A, NM_001319142.3:c.13G>T, NM_001319142.3:c.13G>A, NM_001319142.2:c.13G>T, NM_001319142.2:c.13G>A, NM_001319142.1:c.13G>T, NM_001319142.1:c.13G>A, NM_001319140.2:c.-250G>T, NM_001319140.2:c.-250G>A, NM_001319140.1:c.-250G>T, NM_001319140.1:c.-250G>A, NM_001319143.2:c.13G>T, NM_001319143.2:c.13G>A, NM_001319143.1:c.13G>T, NM_001319143.1:c.13G>A, NR_037591.1:n.96G>T, NR_037591.1:n.96G>A, NR_037592.1:n.96G>T, NR_037592.1:n.96G>A, NM_172199.1:c.13G>T, NM_172199.1:c.13G>A, NP_037543.1:p.Val5Leu, NP_037543.1:p.Val5Met, NP_001616.1:p.Val5Leu, NP_001616.1:p.Val5Met, NP_001306070.1:p.Val5Leu, NP_001306070.1:p.Val5Met, NP_001186128.1:p.Val5Leu, NP_001186128.1:p.Val5Met, NP_001306071.1:p.Val5Leu, NP_001306071.1:p.Val5Met, NP_001306072.1:p.Val5Leu, NP_001306072.1:p.Val5Met

Select item 145028001116.

rs1450280011 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:33014581 (GRCh38)
1:33480182 (GRCh37)
Canonical SPDI:: NC_000001.11:33014580:T:C
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.33014581T>C, NC_000001.10:g.33480182T>C, NG_016269.1:g.27311A>G, NM_013411.5:c.439A>G, NM_013411.4:c.439A>G, NM_001625.4:c.439A>G, NM_001625.3:c.439A>G, NM_001319139.3:c.295A>G, NM_001319139.2:c.295A>G, NM_001319139.1:c.295A>G, NM_001319141.3:c.439A>G, NM_001319141.2:c.439A>G, NM_001319141.1:c.439A>G, NM_001199199.3:c.415A>G, NM_001199199.2:c.415A>G, NM_001199199.1:c.415A>G, NR_134976.3:n.399A>G, NR_134976.2:n.399A>G, NR_134976.1:n.427A>G, NM_001319142.3:c.313A>G, NM_001319142.2:c.313A>G, NM_001319142.1:c.313A>G, NM_001319140.2:c.295A>G, NM_001319140.1:c.295A>G, NM_001319143.2:c.344A>G, NM_001319143.1:c.344A>G, NR_037591.1:n.640A>G, NR_037592.1:n.640A>G, NM_172199.1:c.439A>G, NP_037543.1:p.Lys147Glu, NP_001616.1:p.Lys147Glu, NP_001306068.1:p.Lys99Glu, NP_001306070.1:p.Lys147Glu, NP_001186128.1:p.Lys139Glu, NP_001306071.1:p.Lys105Glu, NP_001306069.1:p.Lys99Glu, NP_001306072.1:p.Gln115Arg

Select item 144860198717.

rs1448601987 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:33021609 (GRCh38)
1:33487210 (GRCh37)
Canonical SPDI:: NC_000001.11:33021608:A:G
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: G=0.000008/2 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000001.11:g.33021609A>G, NC_000001.10:g.33487210A>G, NG_016269.1:g.20283T>C, NM_013411.5:c.314T>C, NM_013411.4:c.314T>C, NM_001625.4:c.314T>C, NM_001625.3:c.314T>C, NM_001319139.3:c.170T>C, NM_001319139.2:c.170T>C, NM_001319139.1:c.170T>C, NM_001319141.3:c.314T>C, NM_001319141.2:c.314T>C, NM_001319141.1:c.314T>C, NM_001199199.3:c.314T>C, NM_001199199.2:c.314T>C, NM_001199199.1:c.314T>C, NR_134976.3:n.369T>C, NR_134976.2:n.369T>C, NR_134976.1:n.397T>C, NM_001319142.3:c.188T>C, NM_001319142.2:c.188T>C, NM_001319142.1:c.188T>C, NM_001319140.2:c.170T>C, NM_001319140.1:c.170T>C, NM_001319143.2:c.314T>C, NM_001319143.1:c.314T>C, NR_037591.1:n.515T>C, NR_037592.1:n.515T>C, NM_172199.1:c.314T>C, NP_037543.1:p.Val105Ala, NP_001616.1:p.Val105Ala, NP_001306068.1:p.Val57Ala, NP_001306070.1:p.Val105Ala, NP_001186128.1:p.Val105Ala, NP_001306071.1:p.Val63Ala, NP_001306069.1:p.Val57Ala, NP_001306072.1:p.Val105Ala

Select item 143816934218.

rs1438169342 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:33021654 (GRCh38)
1:33487255 (GRCh37)
Canonical SPDI:: NC_000001.11:33021653:G:A
Gene:: AK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
HGVS:: NC_000001.11:g.33021654G>A, NC_000001.10:g.33487255G>A, NG_016269.1:g.20238C>T, NM_013411.5:c.269C>T, NM_013411.4:c.269C>T, NM_001625.4:c.269C>T, NM_001625.3:c.269C>T, NM_001319139.3:c.125C>T, NM_001319139.2:c.125C>T, NM_001319139.1:c.125C>T, NM_001319141.3:c.269C>T, NM_001319141.2:c.269C>T, NM_001319141.1:c.269C>T, NM_001199199.3:c.269C>T, NM_001199199.2:c.269C>T, NM_001199199.1:c.269C>T, NR_134976.3:n.324C>T, NR_134976.2:n.324C>T, NR_134976.1:n.352C>T, NM_001319142.3:c.143C>T, NM_001319142.2:c.143C>T, NM_001319142.1:c.143C>T, NM_001319140.2:c.125C>T, NM_001319140.1:c.125C>T, NM_001319143.2:c.269C>T, NM_001319143.1:c.269C>T, NR_037591.1:n.470C>T, NR_037592.1:n.470C>T, NM_172199.1:c.269C>T, NP_037543.1:p.Pro90Leu, NP_001616.1:p.Pro90Leu, NP_001306068.1:p.Pro42Leu, NP_001306070.1:p.Pro90Leu, NP_001186128.1:p.Pro90Leu, NP_001306071.1:p.Pro48Leu, NP_001306069.1:p.Pro42Leu, NP_001306072.1:p.Pro90Leu

Select item 143198308019.

rs1431983080 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:33014574 (GRCh38)
1:33480175 (GRCh37)
Canonical SPDI:: NC_000001.11:33014573:C:T
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.33014574C>T, NC_000001.10:g.33480175C>T, NG_016269.1:g.27318G>A, NM_013411.5:c.446G>A, NM_013411.4:c.446G>A, NM_001625.4:c.446G>A, NM_001625.3:c.446G>A, NM_001319139.3:c.302G>A, NM_001319139.2:c.302G>A, NM_001319139.1:c.302G>A, NM_001319141.3:c.446G>A, NM_001319141.2:c.446G>A, NM_001319141.1:c.446G>A, NM_001199199.3:c.422G>A, NM_001199199.2:c.422G>A, NM_001199199.1:c.422G>A, NR_134976.3:n.406G>A, NR_134976.2:n.406G>A, NR_134976.1:n.434G>A, NM_001319142.3:c.320G>A, NM_001319142.2:c.320G>A, NM_001319142.1:c.320G>A, NM_001319140.2:c.302G>A, NM_001319140.1:c.302G>A, NM_001319143.2:c.351G>A, NM_001319143.1:c.351G>A, NR_037591.1:n.647G>A, NR_037592.1:n.647G>A, NM_172199.1:c.446G>A, NP_037543.1:p.Gly149Asp, NP_001616.1:p.Gly149Asp, NP_001306068.1:p.Gly101Asp, NP_001306070.1:p.Gly149Asp, NP_001186128.1:p.Gly141Asp, NP_001306071.1:p.Gly107Asp, NP_001306069.1:p.Gly101Asp, NP_001306072.1:p.Trp117Ter

Select item 143147491420.

rs1431474914 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:33036784 (GRCh38)
1:33502385 (GRCh37)
Canonical SPDI:: NC_000001.11:33036783:G:A
Gene:: AK2 (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.33036784G>A, NC_000001.10:g.33502385G>A, NG_016269.1:g.5108C>T, NM_013411.5:c.45C>T, NM_013411.4:c.45C>T, NM_001625.4:c.45C>T, NM_001625.3:c.45C>T, NM_001319139.3:c.-218C>T, NM_001319139.2:c.-218C>T, NM_001319139.1:c.-218C>T, NM_001319141.3:c.45C>T, NM_001319141.2:c.45C>T, NM_001319141.1:c.45C>T, NM_001199199.3:c.45C>T, NM_001199199.2:c.45C>T, NM_001199199.1:c.45C>T, NR_134976.3:n.100C>T, NR_134976.2:n.100C>T, NR_134976.1:n.128C>T, NM_001319142.3:c.45C>T, NM_001319142.2:c.45C>T, NM_001319142.1:c.45C>T, NM_001319140.2:c.-218C>T, NM_001319140.1:c.-218C>T, NM_001319143.2:c.45C>T, NM_001319143.1:c.45C>T, NR_037591.1:n.128C>T, NR_037592.1:n.128C>T, NM_172199.1:c.45C>T

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