Canonical Allele Identifier: CA384132307
Gene: GYS2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.21562942T>A , CM000674.2:g.21562942T>A GRCh38
NC_000012.11:g.21715876T>A , CM000674.1:g.21715876T>A GRCh37
NC_000012.10:g.21607143T>A NCBI36
NG_016167.1:g.46906A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000261195.3:c.1038A>T MANE Select ENSP00000261195.2:p.Leu346Phe
ENST00000647960.1:c.*1040A>T ENSP00000497202.1:n.*1040A>T
ENST00000648372.1:n.965A>T
ENST00000261195.2:c.1038A>T ENSP00000261195.2:p.Leu346Phe
NM_021957.3:c.1038A>T NP_068776.2:p.Leu346Phe
XM_005253352.1:c.1038A>T XP_005253409.1:p.Leu346Phe
XM_005253354.2:c.819A>T XP_005253411.1:p.Leu273Phe
XM_006719062.2:c.1038A>T XP_006719125.1:p.Leu346Phe
XM_006719063.2:c.807A>T XP_006719126.1:p.Leu269Phe
NM_021957.4:c.1038A>T MANE Select NP_068776.2:p.Leu346Phe
XM_006719063.3:c.807A>T XP_006719126.1:p.Leu269Phe
XM_017019245.2:c.1038A>T XP_016874734.1:p.Leu346Phe
XM_024448960.1:c.1038A>T XP_024304728.1:p.Leu346Phe