Canonical Allele Identifier: CA2021178581

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562721_21562722delinsAG , CM000674.2:g.21562721_21562722delinsAG	GRCh38
NC_000012.11:g.21715655_21715656delinsAG , CM000674.1:g.21715655_21715656delinsAG	GRCh37
NC_000012.10:g.21606922_21606923delinsAG	NCBI36
NG_016167.1:g.47126_47127delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+196_1062+197delinsCT MANE Select	ENSP00000261195.2:n.1062+196_1062+197delinsCT
ENST00000647960.1:c.*1064+196_*1064+197delinsCT	ENSP00000497202.1:n.*1064+196_*1064+197delinsCT
ENST00000648372.1:n.989+196_989+197delinsCT
ENST00000261195.2:c.1062+196_1062+197delinsCT	ENSP00000261195.2:n.1062+196_1062+197delinsCT
NM_021957.3:c.1062+196_1062+197delinsCT	NP_068776.2:n.1062+196_1062+197delinsCT
XM_005253352.1:c.1062+196_1062+197delinsCT	XP_005253409.1:n.1062+196_1062+197delinsCT
XM_005253354.2:c.843+196_843+197delinsCT	XP_005253411.1:n.843+196_843+197delinsCT
XM_006719062.2:c.1062+196_1062+197delinsCT	XP_006719125.1:n.1062+196_1062+197delinsCT
XM_006719063.2:c.831+196_831+197delinsCT	XP_006719126.1:n.831+196_831+197delinsCT
NM_021957.4:c.1062+196_1062+197delinsCT MANE Select	NP_068776.2:n.1062+196_1062+197delinsCT
XM_006719063.3:c.831+196_831+197delinsCT	XP_006719126.1:n.831+196_831+197delinsCT
XM_017019245.2:c.1062+196_1062+197delinsCT	XP_016874734.1:n.1062+196_1062+197delinsCT
XM_024448960.1:c.1062+196_1062+197delinsCT	XP_024304728.1:n.1062+196_1062+197delinsCT