Canonical Allele Identifier: CA2021178678

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562830_21562834delinsCTATT , CM000674.2:g.21562830_21562834delinsCTATT	GRCh38
NC_000012.11:g.21715764_21715768delinsCTATT , CM000674.1:g.21715764_21715768delinsCTATT	GRCh37
NC_000012.10:g.21607031_21607035delinsCTATT	NCBI36
NG_016167.1:g.47014_47018delinsAATAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+84_1062+88delinsAATAG MANE Select	ENSP00000261195.2:n.1062+84_1062+88delinsAATAG
ENST00000647960.1:c.*1064+84_*1064+88delinsAATAG	ENSP00000497202.1:n.*1064+84_*1064+88delinsAATAG
ENST00000648372.1:n.989+84_989+88delinsAATAG
ENST00000261195.2:c.1062+84_1062+88delinsAATAG	ENSP00000261195.2:n.1062+84_1062+88delinsAATAG
NM_021957.3:c.1062+84_1062+88delinsAATAG	NP_068776.2:n.1062+84_1062+88delinsAATAG
XM_005253352.1:c.1062+84_1062+88delinsAATAG	XP_005253409.1:n.1062+84_1062+88delinsAATAG
XM_005253354.2:c.843+84_843+88delinsAATAG	XP_005253411.1:n.843+84_843+88delinsAATAG
XM_006719062.2:c.1062+84_1062+88delinsAATAG	XP_006719125.1:n.1062+84_1062+88delinsAATAG
XM_006719063.2:c.831+84_831+88delinsAATAG	XP_006719126.1:n.831+84_831+88delinsAATAG
NM_021957.4:c.1062+84_1062+88delinsAATAG MANE Select	NP_068776.2:n.1062+84_1062+88delinsAATAG
XM_006719063.3:c.831+84_831+88delinsAATAG	XP_006719126.1:n.831+84_831+88delinsAATAG
XM_017019245.2:c.1062+84_1062+88delinsAATAG	XP_016874734.1:n.1062+84_1062+88delinsAATAG
XM_024448960.1:c.1062+84_1062+88delinsAATAG	XP_024304728.1:n.1062+84_1062+88delinsAATAG