Canonical Allele Identifier: CA6479748

Gene: GYS2

Linked Data

• dbSNP Id: rs143199072
• ExAC: 12:21695430 C / T
• gnomAD v2: 12-21695430-C-T
• gnomAD v3: 12-21542496-C-T
• gnomAD v4: 12-21542496-C-T
• MyVariant Identifiers: chr12:g.21695430C>T (hg19) ; chr12:g.21542496C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21542496C>T , CM000674.2:g.21542496C>T	GRCh38
NC_000012.11:g.21695430C>T , CM000674.1:g.21695430C>T	GRCh37
NC_000012.10:g.21586697C>T	NCBI36
NG_016167.1:g.67352G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.1645G>A MANE Select	ENSP00000261195.2:p.Gly549Ser
ENST00000647960.1:c.*1647G>A	ENSP00000497202.1:n.*1647G>A
ENST00000261195.2:c.1645G>A	ENSP00000261195.2:p.Gly549Ser
NM_021957.3:c.1645G>A	NP_068776.2:p.Gly549Ser
XM_005253352.1:c.1645G>A	XP_005253409.1:p.Gly549Ser
XM_005253354.2:c.1426G>A	XP_005253411.1:p.Gly476Ser
XM_006719062.2:c.1645G>A	XP_006719125.1:p.Gly549Ser
XM_006719063.2:c.1414G>A	XP_006719126.1:p.Gly472Ser
NM_021957.4:c.1645G>A MANE Select	NP_068776.2:p.Gly549Ser
XM_006719063.3:c.1414G>A	XP_006719126.1:p.Gly472Ser
XM_024448960.1:c.1645G>A	XP_024304728.1:p.Gly549Ser