Canonical Allele Identifier: CA384132273

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562938-T-A
• MyVariant Identifiers: chr12:g.21715872T>A (hg19) ; chr12:g.21562938T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562938T>A , CM000674.2:g.21562938T>A	GRCh38
NC_000012.11:g.21715872T>A , CM000674.1:g.21715872T>A	GRCh37
NC_000012.10:g.21607139T>A	NCBI36
NG_016167.1:g.46910A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1042A>T MANE Select	ENSP00000261195.2:p.Arg348Trp
ENST00000647960.1:c.*1044A>T	ENSP00000497202.1:n.*1044A>T
ENST00000648372.1:n.969A>T
ENST00000261195.2:c.1042A>T	ENSP00000261195.2:p.Arg348Trp
NM_021957.3:c.1042A>T	NP_068776.2:p.Arg348Trp
XM_005253352.1:c.1042A>T	XP_005253409.1:p.Arg348Trp
XM_005253354.2:c.823A>T	XP_005253411.1:p.Arg275Trp
XM_006719062.2:c.1042A>T	XP_006719125.1:p.Arg348Trp
XM_006719063.2:c.811A>T	XP_006719126.1:p.Arg271Trp
NM_021957.4:c.1042A>T MANE Select	NP_068776.2:p.Arg348Trp
XM_006719063.3:c.811A>T	XP_006719126.1:p.Arg271Trp
XM_017019245.2:c.1042A>T	XP_016874734.1:p.Arg348Trp
XM_024448960.1:c.1042A>T	XP_024304728.1:p.Arg348Trp