Canonical Allele Identifier: CA2617923679

Gene: GYS2

Linked Data

• gnomAD v4: 12-21563144-TTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563151_21563153del , CM000674.2:g.21563151_21563153del	GRCh38
NC_000012.11:g.21716085_21716087del , CM000674.1:g.21716085_21716087del	GRCh37
NC_000012.10:g.21607352_21607354del	NCBI36
NG_016167.1:g.46701_46703del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.941+81_941+83del MANE Select	ENSP00000261195.2:n.941+81_941+83del
ENST00000647960.1:c.*943+81_*943+83del	ENSP00000497202.1:n.*943+81_*943+83del
ENST00000648372.1:n.868+81_868+83del
ENST00000261195.2:c.941+81_941+83del	ENSP00000261195.2:n.941+81_941+83del
NM_021957.3:c.941+81_941+83del	NP_068776.2:n.941+81_941+83del
XM_005253352.1:c.941+81_941+83del	XP_005253409.1:n.941+81_941+83del
XM_005253354.2:c.722+81_722+83del	XP_005253411.1:n.722+81_722+83del
XM_006719062.2:c.941+81_941+83del	XP_006719125.1:n.941+81_941+83del
XM_006719063.2:c.710+81_710+83del	XP_006719126.1:n.710+81_710+83del
NM_021957.4:c.941+81_941+83del MANE Select	NP_068776.2:n.941+81_941+83del
XM_006719063.3:c.710+81_710+83del	XP_006719126.1:n.710+81_710+83del
XM_017019245.2:c.941+81_941+83del	XP_016874734.1:n.941+81_941+83del
XM_024448960.1:c.941+81_941+83del	XP_024304728.1:n.941+81_941+83del