Canonical Allele Identifier: CA384132737

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715920A>C (hg19) ; chr12:g.21562986A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562986A>C , CM000674.2:g.21562986A>C	GRCh38
NC_000012.11:g.21715920A>C , CM000674.1:g.21715920A>C	GRCh37
NC_000012.10:g.21607187A>C	NCBI36
NG_016167.1:g.46862T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.994T>G MANE Select	ENSP00000261195.2:p.Tyr332Asp
ENST00000647960.1:c.*996T>G	ENSP00000497202.1:n.*996T>G
ENST00000648372.1:n.921T>G
ENST00000261195.2:c.994T>G	ENSP00000261195.2:p.Tyr332Asp
NM_021957.3:c.994T>G	NP_068776.2:p.Tyr332Asp
XM_005253352.1:c.994T>G	XP_005253409.1:p.Tyr332Asp
XM_005253354.2:c.775T>G	XP_005253411.1:p.Tyr259Asp
XM_006719062.2:c.994T>G	XP_006719125.1:p.Tyr332Asp
XM_006719063.2:c.763T>G	XP_006719126.1:p.Tyr255Asp
NM_021957.4:c.994T>G MANE Select	NP_068776.2:p.Tyr332Asp
XM_006719063.3:c.763T>G	XP_006719126.1:p.Tyr255Asp
XM_017019245.2:c.994T>G	XP_016874734.1:p.Tyr332Asp
XM_024448960.1:c.994T>G	XP_024304728.1:p.Tyr332Asp