Canonical Allele Identifier: CA2021178716

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562872_21562873delinsAG , CM000674.2:g.21562872_21562873delinsAG	GRCh38
NC_000012.11:g.21715806_21715807delinsAG , CM000674.1:g.21715806_21715807delinsAG	GRCh37
NC_000012.10:g.21607073_21607074delinsAG	NCBI36
NG_016167.1:g.46975_46976delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+45_1062+46delinsCT MANE Select	ENSP00000261195.2:n.1062+45_1062+46delinsCT
ENST00000647960.1:c.*1064+45_*1064+46delinsCT	ENSP00000497202.1:n.*1064+45_*1064+46delinsCT
ENST00000648372.1:n.989+45_989+46delinsCT
ENST00000261195.2:c.1062+45_1062+46delinsCT	ENSP00000261195.2:n.1062+45_1062+46delinsCT
NM_021957.3:c.1062+45_1062+46delinsCT	NP_068776.2:n.1062+45_1062+46delinsCT
XM_005253352.1:c.1062+45_1062+46delinsCT	XP_005253409.1:n.1062+45_1062+46delinsCT
XM_005253354.2:c.843+45_843+46delinsCT	XP_005253411.1:n.843+45_843+46delinsCT
XM_006719062.2:c.1062+45_1062+46delinsCT	XP_006719125.1:n.1062+45_1062+46delinsCT
XM_006719063.2:c.831+45_831+46delinsCT	XP_006719126.1:n.831+45_831+46delinsCT
NM_021957.4:c.1062+45_1062+46delinsCT MANE Select	NP_068776.2:n.1062+45_1062+46delinsCT
XM_006719063.3:c.831+45_831+46delinsCT	XP_006719126.1:n.831+45_831+46delinsCT
XM_017019245.2:c.1062+45_1062+46delinsCT	XP_016874734.1:n.1062+45_1062+46delinsCT
XM_024448960.1:c.1062+45_1062+46delinsCT	XP_024304728.1:n.1062+45_1062+46delinsCT