Canonical Allele Identifier: CA2021176984

Gene: GYS2

Linked Data

• dbSNP Id: rs1944222707

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21559310_21559311del , CM000674.2:g.21559310_21559311del	GRCh38
NC_000012.11:g.21712244_21712245del , CM000674.1:g.21712244_21712245del	GRCh37
NC_000012.10:g.21603511_21603512del	NCBI36
NG_016167.1:g.50538_50539del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1230-141_1230-140del MANE Select	ENSP00000261195.2:n.1230-141_1230-140del
ENST00000647960.1:c.*1232-141_*1232-140del	ENSP00000497202.1:n.*1232-141_*1232-140del
ENST00000648372.1:n.1157-141_1157-140del
ENST00000261195.2:c.1230-141_1230-140del	ENSP00000261195.2:n.1230-141_1230-140del
NM_021957.3:c.1230-141_1230-140del	NP_068776.2:n.1230-141_1230-140del
XM_005253352.1:c.1230-141_1230-140del	XP_005253409.1:n.1230-141_1230-140del
XM_005253354.2:c.1011-141_1011-140del	XP_005253411.1:n.1011-141_1011-140del
XM_006719062.2:c.1230-141_1230-140del	XP_006719125.1:n.1230-141_1230-140del
XM_006719063.2:c.999-141_999-140del	XP_006719126.1:n.999-141_999-140del
NM_021957.4:c.1230-141_1230-140del MANE Select	NP_068776.2:n.1230-141_1230-140del
XM_006719063.3:c.999-141_999-140del	XP_006719126.1:n.999-141_999-140del
XM_024448960.1:c.1230-141_1230-140del	XP_024304728.1:n.1230-141_1230-140del