SNP Links for Protein (Select 315630393) - SNP

Links from Protein

Items: 1 to 20 of 227

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Select item 14877196701.

rs1487719670 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:50105935 (GRCh38)
17:48183299 (GRCh37)
Canonical SPDI:: NC_000017.11:50105934:C:A
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50105935C>A, NC_000017.10:g.48183299C>A, NM_002611.5:c.383C>A, NM_002611.4:c.383C>A, NM_001199898.2:c.191C>A, NM_001199898.1:c.191C>A, NM_001199899.2:c.191C>A, NM_001199899.1:c.191C>A, NM_001199900.2:c.383C>A, NM_001199900.1:c.383C>A, NP_002602.2:p.Pro128His, NP_001186827.1:p.Pro64His, NP_001186828.1:p.Pro64His, NP_001186829.1:p.Pro128His

Select item 14874460202.

rs1487446020 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:50106131 (GRCh38)
17:48183495 (GRCh37)
Canonical SPDI:: NC_000017.11:50106130:C:G,NC_000017.11:50106130:C:T
Gene:: PDK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.50106131C>G, NC_000017.11:g.50106131C>T, NC_000017.10:g.48183495C>G, NC_000017.10:g.48183495C>T, NM_001199900.2:c.579C>G, NM_001199900.2:c.579C>T, NM_001199900.1:c.579C>G, NM_001199900.1:c.579C>T

Select item 14828037203.

rs1482803720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50106122 (GRCh38)
17:48183486 (GRCh37)
Canonical SPDI:: NC_000017.11:50106121:G:A
Gene:: PDK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50106122G>A, NC_000017.10:g.48183486G>A, NM_001199900.2:c.570G>A, NM_001199900.1:c.570G>A

Select item 14825528364.

rs1482552836 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 17:50105970 (GRCh38)
17:48183334 (GRCh37)
Canonical SPDI:: NC_000017.11:50105969:A:C,NC_000017.11:50105969:A:G
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
C=0.003821/7 (Korea1K)
HGVS:: NC_000017.11:g.50105970A>C, NC_000017.11:g.50105970A>G, NC_000017.10:g.48183334A>C, NC_000017.10:g.48183334A>G, NM_002611.5:c.418A>C, NM_002611.5:c.418A>G, NM_002611.4:c.418A>C, NM_002611.4:c.418A>G, NM_001199898.2:c.226A>C, NM_001199898.2:c.226A>G, NM_001199898.1:c.226A>C, NM_001199898.1:c.226A>G, NM_001199899.2:c.226A>C, NM_001199899.2:c.226A>G, NM_001199899.1:c.226A>C, NM_001199899.1:c.226A>G, NM_001199900.2:c.418A>C, NM_001199900.2:c.418A>G, NM_001199900.1:c.418A>C, NM_001199900.1:c.418A>G, NP_002602.2:p.Thr140Pro, NP_002602.2:p.Thr140Ala, NP_001186827.1:p.Thr76Pro, NP_001186827.1:p.Thr76Ala, NP_001186828.1:p.Thr76Pro, NP_001186828.1:p.Thr76Ala, NP_001186829.1:p.Thr140Pro, NP_001186829.1:p.Thr140Ala

Select item 14816694315.

rs1481669431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50106135 (GRCh38)
17:48183499 (GRCh37)
Canonical SPDI:: NC_000017.11:50106134:G:A
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
HGVS:: NC_000017.11:g.50106135G>A, NC_000017.10:g.48183499G>A, NM_001199900.2:c.583G>A, NM_001199900.1:c.583G>A, NP_001186829.1:p.Ala195Thr

Select item 14815673956.

rs1481567395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50097525 (GRCh38)
17:48174889 (GRCh37)
Canonical SPDI:: NC_000017.11:50097524:G:A
Gene:: PDK2 (Varview), LOC124904026 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50097525G>A, NC_000017.10:g.48174889G>A, NM_002611.5:c.221G>A, NM_002611.4:c.221G>A, NM_001199898.2:c.29G>A, NM_001199898.1:c.29G>A, NM_001199899.2:c.29G>A, NM_001199899.1:c.29G>A, NM_001199900.2:c.221G>A, NM_001199900.1:c.221G>A, NP_002602.2:p.Arg74Gln, NP_001186827.1:p.Arg10Gln, NP_001186828.1:p.Arg10Gln, NP_001186829.1:p.Arg74Gln

Select item 14805566777.

rs1480556677 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:50105380 (GRCh38)
17:48182744 (GRCh37)
Canonical SPDI:: NC_000017.11:50105379:G:T
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.50105380G>T, NC_000017.10:g.48182744G>T, NM_002611.5:c.270G>T, NM_002611.4:c.270G>T, NM_001199898.2:c.78G>T, NM_001199898.1:c.78G>T, NM_001199899.2:c.78G>T, NM_001199899.1:c.78G>T, NM_001199900.2:c.270G>T, NM_001199900.1:c.270G>T, NP_002602.2:p.Gln90His, NP_001186827.1:p.Gln26His, NP_001186828.1:p.Gln26His, NP_001186829.1:p.Gln90His

Select item 14747635818.

rs1474763581 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50095482 (GRCh38)
17:48172846 (GRCh37)
Canonical SPDI:: NC_000017.11:50095481:C:T
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.50095482C>T, NC_000017.10:g.48172846C>T, NM_002611.5:c.47C>T, NM_002611.4:c.47C>T, NM_001199900.2:c.47C>T, NM_001199900.1:c.47C>T, NP_002602.2:p.Ala16Val, NP_001186829.1:p.Ala16Val

Select item 14711302479.

rs1471130247 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:50105954 (GRCh38)
17:48183318 (GRCh37)
Canonical SPDI:: NC_000017.11:50105953:G:T
Gene:: PDK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.50105954G>T, NC_000017.10:g.48183318G>T, NM_002611.5:c.402G>T, NM_002611.4:c.402G>T, NM_001199898.2:c.210G>T, NM_001199898.1:c.210G>T, NM_001199899.2:c.210G>T, NM_001199899.1:c.210G>T, NM_001199900.2:c.402G>T, NM_001199900.1:c.402G>T

Select item 146175086010.

rs1461750860 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:50106079 (GRCh38)
17:48183443 (GRCh37)
Canonical SPDI:: NC_000017.11:50106078:G:A,NC_000017.11:50106078:G:C
Gene:: PDK2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000029/4 (GnomAD)
A=0.00006/1 (TOMMO)
HGVS:: NC_000017.11:g.50106079G>A, NC_000017.11:g.50106079G>C, NC_000017.10:g.48183443G>A, NC_000017.10:g.48183443G>C, NM_001199900.2:c.527G>A, NM_001199900.2:c.527G>C, NM_001199900.1:c.527G>A, NM_001199900.1:c.527G>C, NP_001186829.1:p.Arg176Gln, NP_001186829.1:p.Arg176Pro

Select item 145939269511.

rs1459392695 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:50095534 (GRCh38)
17:48172898 (GRCh37)
Canonical SPDI:: NC_000017.11:50095533:G:T
Gene:: PDK2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50095534G>T, NC_000017.10:g.48172898G>T, NM_002611.5:c.99G>T, NM_002611.4:c.99G>T, NM_001199900.2:c.99G>T, NM_001199900.1:c.99G>T, NP_002602.2:p.Met33Ile, NP_001186829.1:p.Met33Ile

Select item 145490072012.

rs1454900720 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:50106061 (GRCh38)
17:48183425 (GRCh37)
Canonical SPDI:: NC_000017.11:50106060:A:G
Gene:: PDK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.50106061A>G, NC_000017.10:g.48183425A>G, NM_002611.5:c.509A>G, NM_002611.4:c.509A>G, NM_001199898.2:c.317A>G, NM_001199898.1:c.317A>G, NM_001199899.2:c.317A>G, NM_001199899.1:c.317A>G, NM_001199900.2:c.509A>G, NM_001199900.1:c.509A>G, NP_002602.2:p.Asn170Ser, NP_001186827.1:p.Asn106Ser, NP_001186828.1:p.Asn106Ser, NP_001186829.1:p.Asn170Ser

Select item 145478393313.

rs1454783933 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50097473 (GRCh38)
17:48174837 (GRCh37)
Canonical SPDI:: NC_000017.11:50097472:C:T
Gene:: PDK2 (Varview), LOC124904026 (Varview)
Functional Consequence:: downstream_transcript_variant,5_prime_UTR_variant,synonymous_variant,500B_downstream_variant,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)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50097473C>T, NC_000017.10:g.48174837C>T, NM_002611.5:c.169C>T, NM_002611.4:c.169C>T, NM_001199898.2:c.-24C>T, NM_001199898.1:c.-24C>T, NM_001199899.2:c.-24C>T, NM_001199899.1:c.-24C>T, NM_001199900.2:c.169C>T, NM_001199900.1:c.169C>T

Select item 145460112114.

rs1454601121 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 17:50106145 (GRCh38)
17:48183509 (GRCh37)
Canonical SPDI:: NC_000017.11:50106144:G:A,NC_000017.11:50106144:G:C,NC_000017.11:50106144:G:T
Gene:: PDK2 (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000104/15 (GnomAD_exomes)
A=0.000264/37 (GnomAD)
HGVS:: NC_000017.11:g.50106145G>A, NC_000017.11:g.50106145G>C, NC_000017.11:g.50106145G>T, NC_000017.10:g.48183509G>A, NC_000017.10:g.48183509G>C, NC_000017.10:g.48183509G>T, NM_001199900.2:c.593G>A, NM_001199900.2:c.593G>C, NM_001199900.2:c.593G>T, NM_001199900.1:c.593G>A, NM_001199900.1:c.593G>C, NM_001199900.1:c.593G>T, NP_001186829.1:p.Gly198Glu, NP_001186829.1:p.Gly198Ala, NP_001186829.1:p.Gly198Val

Select item 145346008515.

rs1453460085 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50097551 (GRCh38)
17:48174915 (GRCh37)
Canonical SPDI:: NC_000017.11:50097550:C:T
Gene:: PDK2 (Varview), LOC124904026 (Varview)
Functional Consequence:: downstream_transcript_variant,synonymous_variant,500B_downstream_variant,coding_sequence_variant
HGVS:: NC_000017.11:g.50097551C>T, NC_000017.10:g.48174915C>T, NM_002611.5:c.247C>T, NM_002611.4:c.247C>T, NM_001199898.2:c.55C>T, NM_001199898.1:c.55C>T, NM_001199899.2:c.55C>T, NM_001199899.1:c.55C>T, NM_001199900.2:c.247C>T, NM_001199900.1:c.247C>T

Select item 144613077016.

rs1446130770 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50105925 (GRCh38)
17:48183289 (GRCh37)
Canonical SPDI:: NC_000017.11:50105924:G:A
Gene:: PDK2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.50105925G>A, NC_000017.10:g.48183289G>A, NM_002611.5:c.373G>A, NM_002611.4:c.373G>A, NM_001199898.2:c.181G>A, NM_001199898.1:c.181G>A, NM_001199899.2:c.181G>A, NM_001199899.1:c.181G>A, NM_001199900.2:c.373G>A, NM_001199900.1:c.373G>A, NP_002602.2:p.Asp125Asn, NP_001186827.1:p.Asp61Asn, NP_001186828.1:p.Asp61Asn, NP_001186829.1:p.Asp125Asn

Select item 144430376317.

rs1444303763 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:50105383 (GRCh38)
17:48182747 (GRCh37)
Canonical SPDI:: NC_000017.11:50105382:C:T
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.50105383C>T, NC_000017.10:g.48182747C>T, NM_002611.5:c.273C>T, NM_002611.4:c.273C>T, NM_001199898.2:c.81C>T, NM_001199898.1:c.81C>T, NM_001199899.2:c.81C>T, NM_001199899.1:c.81C>T, NM_001199900.2:c.273C>T, NM_001199900.1:c.273C>T

Select item 144316220818.

rs1443162208 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:50105389 (GRCh38)
17:48182753 (GRCh37)
Canonical SPDI:: NC_000017.11:50105388:G:A
Gene:: PDK2 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50105389G>A, NC_000017.10:g.48182753G>A, NM_002611.5:c.279G>A, NM_002611.4:c.279G>A, NM_001199898.2:c.87G>A, NM_001199898.1:c.87G>A, NM_001199899.2:c.87G>A, NM_001199899.1:c.87G>A, NM_001199900.2:c.279G>A, NM_001199900.1:c.279G>A

Select item 142419366819.

rs1424193668 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 17:50095541 (GRCh38)
17:48172905 (GRCh37)
Canonical SPDI:: NC_000017.11:50095540:T:A,NC_000017.11:50095540:T:C
Gene:: PDK2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0.00005/1 (ALFA)
HGVS:: NC_000017.11:g.50095541T>A, NC_000017.11:g.50095541T>C, NC_000017.10:g.48172905T>A, NC_000017.10:g.48172905T>C, NM_002611.5:c.106T>A, NM_002611.5:c.106T>C, NM_002611.4:c.106T>A, NM_002611.4:c.106T>C, NM_001199900.2:c.106T>A, NM_001199900.2:c.106T>C, NM_001199900.1:c.106T>A, NM_001199900.1:c.106T>C, NP_002602.2:p.Phe36Ile, NP_002602.2:p.Phe36Leu, NP_001186829.1:p.Phe36Ile, NP_001186829.1:p.Phe36Leu

Select item 141020242020.

rs1410202420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 17:50105401 (GRCh38)
17:48182765 (GRCh37)
Canonical SPDI:: NC_000017.11:50105400:G:A,NC_000017.11:50105400:G:C
Gene:: PDK2 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.50105401G>A, NC_000017.11:g.50105401G>C, NC_000017.10:g.48182765G>A, NC_000017.10:g.48182765G>C, NM_002611.5:c.291G>A, NM_002611.5:c.291G>C, NM_002611.4:c.291G>A, NM_002611.4:c.291G>C, NM_001199898.2:c.99G>A, NM_001199898.2:c.99G>C, NM_001199898.1:c.99G>A, NM_001199898.1:c.99G>C, NM_001199899.2:c.99G>A, NM_001199899.2:c.99G>C, NM_001199899.1:c.99G>A, NM_001199899.1:c.99G>C, NM_001199900.2:c.291G>A, NM_001199900.2:c.291G>C, NM_001199900.1:c.291G>A, NM_001199900.1:c.291G>C, NP_002602.2:p.Glu97Asp, NP_001186827.1:p.Glu33Asp, NP_001186828.1:p.Glu33Asp, NP_001186829.1:p.Glu97Asp

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