Canonical Allele Identifier: CA478869485

Gene: GYS2

Linked Data

• MyVariant Identifiers: chr12:g.21715885T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.21562951T>A , CM000674.2:g.21562951T>A	GRCh38
NC_000012.11:g.21715885T>A , CM000674.1:g.21715885T>A	GRCh37
NC_000012.10:g.21607152T>A	NCBI36
NG_016167.1:g.46897A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261195.3:c.1029A>T MANE Select	ENSP00000261195.2:p.Leu343=
ENST00000647960.1:c.*1031A>T	ENSP00000497202.1:n.*1031A>T
ENST00000648372.1:n.956A>T
ENST00000261195.2:c.1029A>T	ENSP00000261195.2:p.Leu343=
NM_021957.3:c.1029A>T	NP_068776.2:p.Leu343=
XM_005253352.1:c.1029A>T	XP_005253409.1:p.Leu343=
XM_005253354.2:c.810A>T	XP_005253411.1:p.Leu270=
XM_006719062.2:c.1029A>T	XP_006719125.1:p.Leu343=
XM_006719063.2:c.798A>T	XP_006719126.1:p.Leu266=
NM_021957.4:c.1029A>T MANE Select	NP_068776.2:p.Leu343=
XM_006719063.3:c.798A>T	XP_006719126.1:p.Leu266=
XM_017019245.2:c.1029A>T	XP_016874734.1:p.Leu343=
XM_024448960.1:c.1029A>T	XP_024304728.1:p.Leu343=