Canonical Allele Identifier: CA2021178906

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563012_21563013delinsGT , CM000674.2:g.21563012_21563013delinsGT	GRCh38
NC_000012.11:g.21715946_21715947delinsGT , CM000674.1:g.21715946_21715947delinsGT	GRCh37
NC_000012.10:g.21607213_21607214delinsGT	NCBI36
NG_016167.1:g.46835_46836delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.967_968delinsAC MANE Select	ENSP00000261195.2:p.Thr323=
ENST00000647960.1:c.*969_*970delinsAC	ENSP00000497202.1:n.*969_*970delinsAC
ENST00000648372.1:n.894_895delinsAC
ENST00000261195.2:c.967_968delinsAC	ENSP00000261195.2:p.Thr323=
NM_021957.3:c.967_968delinsAC	NP_068776.2:p.Thr323=
XM_005253352.1:c.967_968delinsAC	XP_005253409.1:p.Thr323=
XM_005253354.2:c.748_749delinsAC	XP_005253411.1:p.Thr250=
XM_006719062.2:c.967_968delinsAC	XP_006719125.1:p.Thr323=
XM_006719063.2:c.736_737delinsAC	XP_006719126.1:p.Thr246=
NM_021957.4:c.967_968delinsAC MANE Select	NP_068776.2:p.Thr323=
XM_006719063.3:c.736_737delinsAC	XP_006719126.1:p.Thr246=
XM_017019245.2:c.967_968delinsAC	XP_016874734.1:p.Thr323=
XM_024448960.1:c.967_968delinsAC	XP_024304728.1:p.Thr323=