Canonical Allele Identifier: CA2021178537

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562695_21562696delinsCT , CM000674.2:g.21562695_21562696delinsCT	GRCh38
NC_000012.11:g.21715629_21715630delinsCT , CM000674.1:g.21715629_21715630delinsCT	GRCh37
NC_000012.10:g.21606896_21606897delinsCT	NCBI36
NG_016167.1:g.47152_47153delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+222_1062+223delinsAG MANE Select	ENSP00000261195.2:n.1062+222_1062+223delinsAG
ENST00000647960.1:c.*1064+222_*1064+223delinsAG	ENSP00000497202.1:n.*1064+222_*1064+223delinsAG
ENST00000648372.1:n.989+222_989+223delinsAG
ENST00000261195.2:c.1062+222_1062+223delinsAG	ENSP00000261195.2:n.1062+222_1062+223delinsAG
NM_021957.3:c.1062+222_1062+223delinsAG	NP_068776.2:n.1062+222_1062+223delinsAG
XM_005253352.1:c.1062+222_1062+223delinsAG	XP_005253409.1:n.1062+222_1062+223delinsAG
XM_005253354.2:c.843+222_843+223delinsAG	XP_005253411.1:n.843+222_843+223delinsAG
XM_006719062.2:c.1062+222_1062+223delinsAG	XP_006719125.1:n.1062+222_1062+223delinsAG
XM_006719063.2:c.831+222_831+223delinsAG	XP_006719126.1:n.831+222_831+223delinsAG
NM_021957.4:c.1062+222_1062+223delinsAG MANE Select	NP_068776.2:n.1062+222_1062+223delinsAG
XM_006719063.3:c.831+222_831+223delinsAG	XP_006719126.1:n.831+222_831+223delinsAG
XM_017019245.2:c.1062+222_1062+223delinsAG	XP_016874734.1:n.1062+222_1062+223delinsAG
XM_024448960.1:c.1062+222_1062+223delinsAG	XP_024304728.1:n.1062+222_1062+223delinsAG