Canonical Allele Identifier: CA2021178573

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562717_21562722delinsAAAAAG , CM000674.2:g.21562717_21562722delinsAAAAAG	GRCh38
NC_000012.11:g.21715651_21715656delinsAAAAAG , CM000674.1:g.21715651_21715656delinsAAAAAG	GRCh37
NC_000012.10:g.21606918_21606923delinsAAAAAG	NCBI36
NG_016167.1:g.47126_47131delinsCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+196_1062+201delinsCTTTTT MANE Select	ENSP00000261195.2:n.1062+196_1062+201delinsCTTTTT
ENST00000647960.1:c.*1064+196_*1064+201delinsCTTTTT	ENSP00000497202.1:n.*1064+196_*1064+201delinsCTTTTT
ENST00000648372.1:n.989+196_989+201delinsCTTTTT
ENST00000261195.2:c.1062+196_1062+201delinsCTTTTT	ENSP00000261195.2:n.1062+196_1062+201delinsCTTTTT
NM_021957.3:c.1062+196_1062+201delinsCTTTTT	NP_068776.2:n.1062+196_1062+201delinsCTTTTT
XM_005253352.1:c.1062+196_1062+201delinsCTTTTT	XP_005253409.1:n.1062+196_1062+201delinsCTTTTT
XM_005253354.2:c.843+196_843+201delinsCTTTTT	XP_005253411.1:n.843+196_843+201delinsCTTTTT
XM_006719062.2:c.1062+196_1062+201delinsCTTTTT	XP_006719125.1:n.1062+196_1062+201delinsCTTTTT
XM_006719063.2:c.831+196_831+201delinsCTTTTT	XP_006719126.1:n.831+196_831+201delinsCTTTTT
NM_021957.4:c.1062+196_1062+201delinsCTTTTT MANE Select	NP_068776.2:n.1062+196_1062+201delinsCTTTTT
XM_006719063.3:c.831+196_831+201delinsCTTTTT	XP_006719126.1:n.831+196_831+201delinsCTTTTT
XM_017019245.2:c.1062+196_1062+201delinsCTTTTT	XP_016874734.1:n.1062+196_1062+201delinsCTTTTT
XM_024448960.1:c.1062+196_1062+201delinsCTTTTT	XP_024304728.1:n.1062+196_1062+201delinsCTTTTT