Canonical Allele Identifier: CA603675579

Gene: GYS2

Linked Data

• dbSNP Id: rs1565600604
• gnomAD v2: 12-21715965-CG-C
• gnomAD v4: 12-21563031-CG-C
• MyVariant Identifiers: chr12:g.21715966del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21563032del , CM000674.2:g.21563032del	GRCh38
NC_000012.11:g.21715966del , CM000674.1:g.21715966del	GRCh37
NC_000012.10:g.21607233del	NCBI36
NG_016167.1:g.46816del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.948del MANE Select	ENSP00000261195.2:p.Asp317ThrfsTer27
ENST00000647960.1:c.*950del	ENSP00000497202.1:n.*950del
ENST00000648372.1:n.875del
ENST00000261195.2:c.948del	ENSP00000261195.2:p.Asp317ThrfsTer27
NM_021957.3:c.948del	NP_068776.2:p.Asp317ThrfsTer27
XM_005253352.1:c.948del	XP_005253409.1:p.Asp317ThrfsTer27
XM_005253354.2:c.729del	XP_005253411.1:p.Asp244ThrfsTer27
XM_006719062.2:c.948del	XP_006719125.1:p.Asp317ThrfsTer27
XM_006719063.2:c.717del	XP_006719126.1:p.Asp240ThrfsTer27
NM_021957.4:c.948del MANE Select	NP_068776.2:p.Asp317ThrfsTer27
XM_006719063.3:c.717del	XP_006719126.1:p.Asp240ThrfsTer27
XM_017019245.2:c.948del	XP_016874734.1:p.Asp317ThrfsTer27
XM_024448960.1:c.948del	XP_024304728.1:p.Asp317ThrfsTer27