Canonical Allele Identifier: CA2617923074

Gene: GYS2

Linked Data

• gnomAD v4: 12-21559321-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559321_21559322insA , CM000674.2:g.21559321_21559322insA	GRCh38
NC_000012.11:g.21712255_21712256insA , CM000674.1:g.21712255_21712256insA	GRCh37
NC_000012.10:g.21603522_21603523insA	NCBI36
NG_016167.1:g.50526_50527insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-153_1230-152insT MANE Select	ENSP00000261195.2:n.1230-153_1230-152insT
ENST00000647960.1:c.*1232-153_*1232-152insT	ENSP00000497202.1:n.*1232-153_*1232-152insT
ENST00000648372.1:n.1157-153_1157-152insT
ENST00000261195.2:c.1230-153_1230-152insT	ENSP00000261195.2:n.1230-153_1230-152insT
NM_021957.3:c.1230-153_1230-152insT	NP_068776.2:n.1230-153_1230-152insT
XM_005253352.1:c.1230-153_1230-152insT	XP_005253409.1:n.1230-153_1230-152insT
XM_005253354.2:c.1011-153_1011-152insT	XP_005253411.1:n.1011-153_1011-152insT
XM_006719062.2:c.1230-153_1230-152insT	XP_006719125.1:n.1230-153_1230-152insT
XM_006719063.2:c.999-153_999-152insT	XP_006719126.1:n.999-153_999-152insT
NM_021957.4:c.1230-153_1230-152insT MANE Select	NP_068776.2:n.1230-153_1230-152insT
XM_006719063.3:c.999-153_999-152insT	XP_006719126.1:n.999-153_999-152insT
XM_024448960.1:c.1230-153_1230-152insT	XP_024304728.1:n.1230-153_1230-152insT