Canonical Allele Identifier: CA384132775

Gene: GYS2

Linked Data

• COSMIC: COSM294436
• MyVariant Identifiers: chr12:g.21715926C>A (hg19) ; chr12:g.21562992C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562992C>A , CM000674.2:g.21562992C>A	GRCh38
NC_000012.11:g.21715926C>A , CM000674.1:g.21715926C>A	GRCh37
NC_000012.10:g.21607193C>A	NCBI36
NG_016167.1:g.46856G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.988G>T MANE Select	ENSP00000261195.2:p.Gly330Trp
ENST00000647960.1:c.*990G>T	ENSP00000497202.1:n.*990G>T
ENST00000648372.1:n.915G>T
ENST00000261195.2:c.988G>T	ENSP00000261195.2:p.Gly330Trp
NM_021957.3:c.988G>T	NP_068776.2:p.Gly330Trp
XM_005253352.1:c.988G>T	XP_005253409.1:p.Gly330Trp
XM_005253354.2:c.769G>T	XP_005253411.1:p.Gly257Trp
XM_006719062.2:c.988G>T	XP_006719125.1:p.Gly330Trp
XM_006719063.2:c.757G>T	XP_006719126.1:p.Gly253Trp
NM_021957.4:c.988G>T MANE Select	NP_068776.2:p.Gly330Trp
XM_006719063.3:c.757G>T	XP_006719126.1:p.Gly253Trp
XM_017019245.2:c.988G>T	XP_016874734.1:p.Gly330Trp
XM_024448960.1:c.988G>T	XP_024304728.1:p.Gly330Trp