Canonical Allele Identifier: CA2021178539

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562696_21562697delinsTC , CM000674.2:g.21562696_21562697delinsTC	GRCh38
NC_000012.11:g.21715630_21715631delinsTC , CM000674.1:g.21715630_21715631delinsTC	GRCh37
NC_000012.10:g.21606897_21606898delinsTC	NCBI36
NG_016167.1:g.47151_47152delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+221_1062+222delinsGA MANE Select	ENSP00000261195.2:n.1062+221_1062+222delinsGA
ENST00000647960.1:c.*1064+221_*1064+222delinsGA	ENSP00000497202.1:n.*1064+221_*1064+222delinsGA
ENST00000648372.1:n.989+221_989+222delinsGA
ENST00000261195.2:c.1062+221_1062+222delinsGA	ENSP00000261195.2:n.1062+221_1062+222delinsGA
NM_021957.3:c.1062+221_1062+222delinsGA	NP_068776.2:n.1062+221_1062+222delinsGA
XM_005253352.1:c.1062+221_1062+222delinsGA	XP_005253409.1:n.1062+221_1062+222delinsGA
XM_005253354.2:c.843+221_843+222delinsGA	XP_005253411.1:n.843+221_843+222delinsGA
XM_006719062.2:c.1062+221_1062+222delinsGA	XP_006719125.1:n.1062+221_1062+222delinsGA
XM_006719063.2:c.831+221_831+222delinsGA	XP_006719126.1:n.831+221_831+222delinsGA
NM_021957.4:c.1062+221_1062+222delinsGA MANE Select	NP_068776.2:n.1062+221_1062+222delinsGA
XM_006719063.3:c.831+221_831+222delinsGA	XP_006719126.1:n.831+221_831+222delinsGA
XM_017019245.2:c.1062+221_1062+222delinsGA	XP_016874734.1:n.1062+221_1062+222delinsGA
XM_024448960.1:c.1062+221_1062+222delinsGA	XP_024304728.1:n.1062+221_1062+222delinsGA