SNP Links for Protein (Select 5174529) - SNP

Links from Protein

Items: 1 to 20 of 257

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Select item 14912304441.

rs1491230444 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:85542615 (GRCh38)
2:85769738 (GRCh37)
Canonical SPDI:: NC_000002.12:85542614:TT:
Gene:: MAT2A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.85542615_85542616del, NC_000002.11:g.85769738_85769739del, NG_029183.1:g.8638_8639del, NM_005911.6:c.819_820del, NM_005911.5:c.819_820del, NP_005902.1:p.Trp274fs

Select item 14911740402.

rs1491174040 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:85542615 (GRCh38)
2:85769739 (GRCh37)
Canonical SPDI:: NC_000002.12:85542615::A
Gene:: MAT2A (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0./0 (Korea1K)
HGVS:: NC_000002.12:g.85542615_85542616insA, NC_000002.11:g.85769738_85769739insA, NG_029183.1:g.8638_8639insA, NM_005911.6:c.819_820insA, NM_005911.5:c.819_820insA, NP_005902.1:p.Trp274fs

Select item 14883694393.

rs1488369439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 2:85542978 (GRCh38)
2:85770101 (GRCh37)
Canonical SPDI:: NC_000002.12:85542977:A:C,NC_000002.12:85542977:A:G
Gene:: MAT2A (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Clinical significance:: likely-benign
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85542978A>C, NC_000002.12:g.85542978A>G, NC_000002.11:g.85770101A>C, NC_000002.11:g.85770101A>G, NG_011811.2:g.23557T>G, NG_011811.2:g.23557T>C, NG_029183.1:g.9001A>C, NG_029183.1:g.9001A>G, NM_005911.6:c.1029A>C, NM_005911.6:c.1029A>G, NM_005911.5:c.1029A>C, NM_005911.5:c.1029A>G, NP_005902.1:p.Arg343Ser

Select item 14876910934.

rs1487691093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:85542251 (GRCh38)
2:85769374 (GRCh37)
Canonical SPDI:: NC_000002.12:85542250:G:C
Gene:: MAT2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85542251G>C, NC_000002.11:g.85769374G>C, NG_029183.1:g.8274G>C, NM_005911.6:c.646G>C, NM_005911.5:c.646G>C, NP_005902.1:p.Asp216His

Select item 14818049775.

rs1481804977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85539332 (GRCh38)
2:85766455 (GRCh37)
Canonical SPDI:: NC_000002.12:85539331:G:A
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: synonymous_variant,upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant
HGVS:: NC_000002.12:g.85539332G>A, NC_000002.11:g.85766455G>A, NG_029183.1:g.5355G>A, NM_005911.6:c.45G>A, NM_005911.5:c.45G>A

Select item 14797937716.

rs1479793771 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:85541684 (GRCh38)
2:85768807 (GRCh37)
Canonical SPDI:: NC_000002.12:85541683:C:T
Gene:: MAT2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.85541684C>T, NC_000002.11:g.85768807C>T, NG_029183.1:g.7707C>T, NM_005911.6:c.344C>T, NM_005911.5:c.344C>T, NP_005902.1:p.Pro115Leu

Select item 14789911227.

rs1478991122 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85542295 (GRCh38)
2:85769418 (GRCh37)
Canonical SPDI:: NC_000002.12:85542294:T:C
Gene:: MAT2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000008/2 (GnomAD_exomes)
C=0.000015/4 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000002.12:g.85542295T>C, NC_000002.11:g.85769418T>C, NG_029183.1:g.8318T>C, NM_005911.6:c.690T>C, NM_005911.5:c.690T>C

Select item 14682763778.

rs1468276377 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGATCG [Show Flanks]
Chromosome:: 2:85542711 (GRCh38)
2:85769835 (GRCh37)
Canonical SPDI:: NC_000002.12:85542711:G:GCAGATCG
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000002.12:g.85542712_85542713insCAGATCG, NC_000002.11:g.85769835_85769836insCAGATCG, NG_029183.1:g.8735_8736insCAGATCG, NM_005911.6:c.916_917insCAGATCG, NM_005911.5:c.916_917insCAGATCG, NP_005902.1:p.Val306fs

Select item 14666506029.

rs1466650602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 2:85542633 (GRCh38)
2:85769756 (GRCh37)
Canonical SPDI:: NC_000002.12:85542632:A:C,NC_000002.12:85542632:A:T
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000047/1 (ALFA)
T=0./0 (Korea1K)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85542633A>C, NC_000002.12:g.85542633A>T, NC_000002.11:g.85769756A>C, NC_000002.11:g.85769756A>T, NG_029183.1:g.8656A>C, NG_029183.1:g.8656A>T, NM_005911.6:c.837A>C, NM_005911.6:c.837A>T, NM_005911.5:c.837A>C, NM_005911.5:c.837A>T

Select item 145968263610.

rs1459682636 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:85541328 (GRCh38)
2:85768451 (GRCh37)
Canonical SPDI:: NC_000002.12:85541327:A:G
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85541328A>G, NC_000002.11:g.85768451A>G, NG_029183.1:g.7351A>G, NM_005911.6:c.243A>G, NM_005911.5:c.243A>G

Select item 145254340911.

rs1452543409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:85541367 (GRCh38)
2:85768490 (GRCh37)
Canonical SPDI:: NC_000002.12:85541366:T:G
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85541367T>G, NC_000002.11:g.85768490T>G, NG_029183.1:g.7390T>G, NM_005911.6:c.282T>G, NM_005911.5:c.282T>G, NP_005902.1:p.Asp94Glu

Select item 145218702112.

rs1452187021 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 2:85541668 (GRCh38)
2:85768791 (GRCh37)
Canonical SPDI:: NC_000002.12:85541667:T:G
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000002.12:g.85541668T>G, NC_000002.11:g.85768791T>G, NG_029183.1:g.7691T>G, NM_005911.6:c.328T>G, NM_005911.5:c.328T>G, NP_005902.1:p.Leu110Val

Select item 144879857713.

rs1448798577 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 2:85542260 (GRCh38)
2:85769383 (GRCh37)
Canonical SPDI:: NC_000002.12:85542259:A:C
Gene:: MAT2A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.85542260A>C, NC_000002.11:g.85769383A>C, NG_029183.1:g.8283A>C, NM_005911.6:c.655A>C, NM_005911.5:c.655A>C

Select item 144387246614.

rs1443872466 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85541297 (GRCh38)
2:85768420 (GRCh37)
Canonical SPDI:: NC_000002.12:85541296:T:C
Gene:: MAT2A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85541297T>C, NC_000002.11:g.85768420T>C, NG_029183.1:g.7320T>C, NM_005911.6:c.212T>C, NM_005911.5:c.212T>C, NP_005902.1:p.Ile71Thr

Select item 144290731415.

rs1442907314 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:85541932 (GRCh38)
2:85769055 (GRCh37)
Canonical SPDI:: NC_000002.12:85541931:A:G
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000002.12:g.85541932A>G, NC_000002.11:g.85769055A>G, NG_029183.1:g.7955A>G, NM_005911.6:c.509A>G, NM_005911.5:c.509A>G, NP_005902.1:p.Asn170Ser

Select item 144289524916.

rs1442895249 [Homo sapiens]

Variant type:: DEL
Alleles:: TATA>- [Show Flanks]
Chromosome:: 2:85542655 (GRCh38)
2:85769778 (GRCh37)
Canonical SPDI:: NC_000002.12:85542654:TATA:
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000002.12:g.85542655_85542658del, NC_000002.11:g.85769778_85769781del, NG_029183.1:g.8678_8681del, NM_005911.6:c.859_862del, NM_005911.5:c.859_862del, NP_005902.1:p.Tyr287fs

Select item 144266774217.

rs1442667742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:85542166 (GRCh38)
2:85769289 (GRCh37)
Canonical SPDI:: NC_000002.12:85542165:G:A
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.85542166G>A, NC_000002.11:g.85769289G>A, NG_029183.1:g.8189G>A, NM_005911.6:c.561G>A, NM_005911.5:c.561G>A

Select item 144202728318.

rs1442027283 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:85541858 (GRCh38)
2:85768982 (GRCh37)
Canonical SPDI:: NC_000002.12:85541858::C
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000002.12:g.85541858_85541859insC, NC_000002.11:g.85768981_85768982insC, NG_029183.1:g.7881_7882insC, NM_005911.6:c.435_436insC, NM_005911.5:c.435_436insC, NP_005902.1:p.Thr146fs

Select item 144093733019.

rs1440937330 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:85539305 (GRCh38)
2:85766428 (GRCh37)
Canonical SPDI:: NC_000002.12:85539304:C:A,NC_000002.12:85539304:C:T
Gene:: MAT2A (Varview), PARTICL (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000002.12:g.85539305C>A, NC_000002.12:g.85539305C>T, NC_000002.11:g.85766428C>A, NC_000002.11:g.85766428C>T, NG_029183.1:g.5328C>A, NG_029183.1:g.5328C>T, NM_005911.6:c.18C>A, NM_005911.6:c.18C>T, NM_005911.5:c.18C>A, NM_005911.5:c.18C>T, NP_005902.1:p.Asn6Lys

Select item 143927591620.

rs1439275916 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:85542360 (GRCh38)
2:85769483 (GRCh37)
Canonical SPDI:: NC_000002.12:85542359:T:C
Gene:: MAT2A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.85542360T>C, NC_000002.11:g.85769483T>C, NG_029183.1:g.8383T>C, NM_005911.6:c.755T>C, NM_005911.5:c.755T>C, NP_005902.1:p.Ile252Thr

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