Canonical Allele Identifier: CA2830535417

Gene: GYS2

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559322_21559323del , CM000674.2:g.21559322_21559323del	GRCh38
NC_000012.11:g.21712256_21712257del , CM000674.1:g.21712256_21712257del	GRCh37
NC_000012.10:g.21603523_21603524del	NCBI36
NG_016167.1:g.50526_50527del

Transcript Alleles

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