Canonical Allele Identifier: CA384132526

Gene: GYS2

Linked Data

• gnomAD v4: 12-21562962-C-G
• MyVariant Identifiers: chr12:g.21715896C>G (hg19) ; chr12:g.21562962C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562962C>G , CM000674.2:g.21562962C>G	GRCh38
NC_000012.11:g.21715896C>G , CM000674.1:g.21715896C>G	GRCh37
NC_000012.10:g.21607163C>G	NCBI36
NG_016167.1:g.46886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1018G>C MANE Select	ENSP00000261195.2:p.Asp340His
ENST00000647960.1:c.*1020G>C	ENSP00000497202.1:n.*1020G>C
ENST00000648372.1:n.945G>C
ENST00000261195.2:c.1018G>C	ENSP00000261195.2:p.Asp340His
NM_021957.3:c.1018G>C	NP_068776.2:p.Asp340His
XM_005253352.1:c.1018G>C	XP_005253409.1:p.Asp340His
XM_005253354.2:c.799G>C	XP_005253411.1:p.Asp267His
XM_006719062.2:c.1018G>C	XP_006719125.1:p.Asp340His
XM_006719063.2:c.787G>C	XP_006719126.1:p.Asp263His
NM_021957.4:c.1018G>C MANE Select	NP_068776.2:p.Asp340His
XM_006719063.3:c.787G>C	XP_006719126.1:p.Asp263His
XM_017019245.2:c.1018G>C	XP_016874734.1:p.Asp340His
XM_024448960.1:c.1018G>C	XP_024304728.1:p.Asp340His