Canonical Allele Identifier: CA2617923066

Gene: GYS2

Linked Data

• gnomAD v4: 12-21559312-G-GACTTATGT

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559317_21559318insTGTACTTA , CM000674.2:g.21559317_21559318insTGTACTTA	GRCh38
NC_000012.11:g.21712251_21712252insTGTACTTA , CM000674.1:g.21712251_21712252insTGTACTTA	GRCh37
NC_000012.10:g.21603518_21603519insTGTACTTA	NCBI36
NG_016167.1:g.50535_50536insACATAAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-144_1230-143insACATAAGT MANE Select	ENSP00000261195.2:n.1230-144_1230-143insACATAAGT
ENST00000647960.1:c.*1232-144_*1232-143insACATAAGT	ENSP00000497202.1:n.*1232-144_*1232-143insACATAAGT
ENST00000648372.1:n.1157-144_1157-143insACATAAGT
ENST00000261195.2:c.1230-144_1230-143insACATAAGT	ENSP00000261195.2:n.1230-144_1230-143insACATAAGT
NM_021957.3:c.1230-144_1230-143insACATAAGT	NP_068776.2:n.1230-144_1230-143insACATAAGT
XM_005253352.1:c.1230-144_1230-143insACATAAGT	XP_005253409.1:n.1230-144_1230-143insACATAAGT
XM_005253354.2:c.1011-144_1011-143insACATAAGT	XP_005253411.1:n.1011-144_1011-143insACATAAGT
XM_006719062.2:c.1230-144_1230-143insACATAAGT	XP_006719125.1:n.1230-144_1230-143insACATAAGT
XM_006719063.2:c.999-144_999-143insACATAAGT	XP_006719126.1:n.999-144_999-143insACATAAGT
NM_021957.4:c.1230-144_1230-143insACATAAGT MANE Select	NP_068776.2:n.1230-144_1230-143insACATAAGT
XM_006719063.3:c.999-144_999-143insACATAAGT	XP_006719126.1:n.999-144_999-143insACATAAGT
XM_024448960.1:c.1230-144_1230-143insACATAAGT	XP_024304728.1:n.1230-144_1230-143insACATAAGT