Canonical Allele Identifier: CA384119166

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21695436C>A (hg19) ; chr12:g.21542502C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21542502C>A , CM000674.2:g.21542502C>A	GRCh38
NC_000012.11:g.21695436C>A , CM000674.1:g.21695436C>A	GRCh37
NC_000012.10:g.21586703C>A	NCBI36
NG_016167.1:g.67346G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261195.3:c.1639G>T MANE Select	ENSP00000261195.2:p.Ala547Ser
ENST00000647960.1:c.*1641G>T	ENSP00000497202.1:n.*1641G>T
ENST00000261195.2:c.1639G>T	ENSP00000261195.2:p.Ala547Ser
NM_021957.3:c.1639G>T	NP_068776.2:p.Ala547Ser
XM_005253352.1:c.1639G>T	XP_005253409.1:p.Ala547Ser
XM_005253354.2:c.1420G>T	XP_005253411.1:p.Ala474Ser
XM_006719062.2:c.1639G>T	XP_006719125.1:p.Ala547Ser
XM_006719063.2:c.1408G>T	XP_006719126.1:p.Ala470Ser
NM_021957.4:c.1639G>T MANE Select	NP_068776.2:p.Ala547Ser
XM_006719063.3:c.1408G>T	XP_006719126.1:p.Ala470Ser
XM_024448960.1:c.1639G>T	XP_024304728.1:p.Ala547Ser