Canonical Allele Identifier: CA2021179017

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563075_21563078delinsTACA , CM000674.2:g.21563075_21563078delinsTACA	GRCh38
NC_000012.11:g.21716009_21716012delinsTACA , CM000674.1:g.21716009_21716012delinsTACA	GRCh37
NC_000012.10:g.21607276_21607279delinsTACA	NCBI36
NG_016167.1:g.46770_46773delinsTGTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.942-40_942-37delinsTGTA MANE Select	ENSP00000261195.2:n.942-40_942-37delinsTGTA
ENST00000647960.1:c.*944-40_*944-37delinsTGTA	ENSP00000497202.1:n.*944-40_*944-37delinsTGTA
ENST00000648372.1:n.869-40_869-37delinsTGTA
ENST00000261195.2:c.942-40_942-37delinsTGTA	ENSP00000261195.2:n.942-40_942-37delinsTGTA
NM_021957.3:c.942-40_942-37delinsTGTA	NP_068776.2:n.942-40_942-37delinsTGTA
XM_005253352.1:c.942-40_942-37delinsTGTA	XP_005253409.1:n.942-40_942-37delinsTGTA
XM_005253354.2:c.723-40_723-37delinsTGTA	XP_005253411.1:n.723-40_723-37delinsTGTA
XM_006719062.2:c.942-40_942-37delinsTGTA	XP_006719125.1:n.942-40_942-37delinsTGTA
XM_006719063.2:c.711-40_711-37delinsTGTA	XP_006719126.1:n.711-40_711-37delinsTGTA
NM_021957.4:c.942-40_942-37delinsTGTA MANE Select	NP_068776.2:n.942-40_942-37delinsTGTA
XM_006719063.3:c.711-40_711-37delinsTGTA	XP_006719126.1:n.711-40_711-37delinsTGTA
XM_017019245.2:c.942-40_942-37delinsTGTA	XP_016874734.1:n.942-40_942-37delinsTGTA
XM_024448960.1:c.942-40_942-37delinsTGTA	XP_024304728.1:n.942-40_942-37delinsTGTA