Canonical Allele Identifier: CA2617923068

Gene: GYS2

Linked Data

• gnomAD v4: 12-21559314-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559315_21559316del , CM000674.2:g.21559315_21559316del	GRCh38
NC_000012.11:g.21712249_21712250del , CM000674.1:g.21712249_21712250del	GRCh37
NC_000012.10:g.21603516_21603517del	NCBI36
NG_016167.1:g.50532_50533del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-147_1230-146del MANE Select	ENSP00000261195.2:n.1230-147_1230-146del
ENST00000647960.1:c.*1232-147_*1232-146del	ENSP00000497202.1:n.*1232-147_*1232-146del
ENST00000648372.1:n.1157-147_1157-146del
ENST00000261195.2:c.1230-147_1230-146del	ENSP00000261195.2:n.1230-147_1230-146del
NM_021957.3:c.1230-147_1230-146del	NP_068776.2:n.1230-147_1230-146del
XM_005253352.1:c.1230-147_1230-146del	XP_005253409.1:n.1230-147_1230-146del
XM_005253354.2:c.1011-147_1011-146del	XP_005253411.1:n.1011-147_1011-146del
XM_006719062.2:c.1230-147_1230-146del	XP_006719125.1:n.1230-147_1230-146del
XM_006719063.2:c.999-147_999-146del	XP_006719126.1:n.999-147_999-146del
NM_021957.4:c.1230-147_1230-146del MANE Select	NP_068776.2:n.1230-147_1230-146del
XM_006719063.3:c.999-147_999-146del	XP_006719126.1:n.999-147_999-146del
XM_024448960.1:c.1230-147_1230-146del	XP_024304728.1:n.1230-147_1230-146del