Canonical Allele Identifier: CA478868757

Gene: GYS2

Linked Data

• gnomAD v3: 12-21546468-C-A
• gnomAD v4: 12-21546468-C-A
• MyVariant Identifiers: chr12:g.21699402C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21546468C>A , CM000674.2:g.21546468C>A	GRCh38
NC_000012.11:g.21699402C>A , CM000674.1:g.21699402C>A	GRCh37
NC_000012.10:g.21590669C>A	NCBI36
NG_016167.1:g.63380G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.1425G>T MANE Select	ENSP00000261195.2:p.Val475=
ENST00000647960.1:c.*1427G>T	ENSP00000497202.1:n.*1427G>T
ENST00000261195.2:c.1425G>T	ENSP00000261195.2:p.Val475=
NM_021957.3:c.1425G>T	NP_068776.2:p.Val475=
XM_005253352.1:c.1425G>T	XP_005253409.1:p.Val475=
XM_005253354.2:c.1206G>T	XP_005253411.1:p.Val402=
XM_006719062.2:c.1425G>T	XP_006719125.1:p.Val475=
XM_006719063.2:c.1194G>T	XP_006719126.1:p.Val398=
NM_021957.4:c.1425G>T MANE Select	NP_068776.2:p.Val475=
XM_006719063.3:c.1194G>T	XP_006719126.1:p.Val398=
XM_024448960.1:c.1425G>T	XP_024304728.1:p.Val475=