Canonical Allele Identifier: CA6479989
Gene: GYS2 HGNC NCBI
COSMIC:
COSM5001139 (not active)
MyVariant.info:
GRCh38 chr12:g.21560468T>C
GRCh37 chr12:g.21713402T>C
Revel Score:
ENST00000261195 (MANE Select) 0.189
gnomAD v2:
12:21713402 T / C
gnomAD v3:
12:21560468 T / C
gnomAD v4:
chr12-21560468-T-C
Joint Max Group AF 0.79060908 (NFE)
Genomes Max Group AF 0.77675804 (NFE)
Exomes Max Group AF 0.79117676 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21560468T>C , CM000674.2:g.21560468T>C GRCh38
NC_000012.11:g.21713402T>C , CM000674.1:g.21713402T>C GRCh37
NC_000012.10:g.21604669T>C NCBI36
NG_016167.1:g.49380A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261195.3:c.1087A>G MANE Select ENSP00000261195.2:p.Met363Val
ENST00000647960.1:c.*1089A>G ENSP00000497202.1:n.*1089A>G
ENST00000648372.1:n.1014A>G
ENST00000261195.2:c.1087A>G ENSP00000261195.2:p.Met363Val
NM_021957.3:c.1087A>G NP_068776.2:p.Met363Val
XM_005253352.1:c.1087A>G XP_005253409.1:p.Met363Val
XM_005253354.2:c.868A>G XP_005253411.1:p.Met290Val
XM_006719062.2:c.1087A>G XP_006719125.1:p.Met363Val
XM_006719063.2:c.856A>G XP_006719126.1:p.Met286Val
NM_021957.4:c.1087A>G MANE Select NP_068776.2:p.Met363Val
XM_006719063.3:c.856A>G XP_006719126.1:p.Met286Val
XM_017019245.2:c.1087A>G XP_016874734.1:p.Met363Val
XM_024448960.1:c.1087A>G XP_024304728.1:p.Met363Val
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