Canonical Allele Identifier: CA945500270

Gene: GYS2

Linked Data

• dbSNP Id: rs1944270022
• gnomAD v3: 12-21562721-AG-A
• gnomAD v4: 12-21562721-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562722del , CM000674.2:g.21562722del	GRCh38
NC_000012.11:g.21715656del , CM000674.1:g.21715656del	GRCh37
NC_000012.10:g.21606923del	NCBI36
NG_016167.1:g.47126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1062+196del MANE Select	ENSP00000261195.2:n.1062+196del
ENST00000647960.1:c.*1064+196del	ENSP00000497202.1:n.*1064+196del
ENST00000648372.1:n.989+196del
ENST00000261195.2:c.1062+196del	ENSP00000261195.2:n.1062+196del
NM_021957.3:c.1062+196del	NP_068776.2:n.1062+196del
XM_005253352.1:c.1062+196del	XP_005253409.1:n.1062+196del
XM_005253354.2:c.843+196del	XP_005253411.1:n.843+196del
XM_006719062.2:c.1062+196del	XP_006719125.1:n.1062+196del
XM_006719063.2:c.831+196del	XP_006719126.1:n.831+196del
NM_021957.4:c.1062+196del MANE Select	NP_068776.2:n.1062+196del
XM_006719063.3:c.831+196del	XP_006719126.1:n.831+196del
XM_017019245.2:c.1062+196del	XP_016874734.1:n.1062+196del
XM_024448960.1:c.1062+196del	XP_024304728.1:n.1062+196del