Canonical Allele Identifier: CA10337063

Gene: GYG2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.2855013G>A , CM000685.2:g.2855013G>A	GRCh38
NC_000023.10:g.2773054G>A , CM000685.1:g.2773054G>A	GRCh37
NC_000023.9:g.2783054G>A	NCBI36
NG_021257.1:g.31192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000398806.8:c.345G>A MANE Select	ENSP00000381786.3:p.Glu115=
ENST00000639373.1:c.438G>A	ENSP00000491962.1:p.Glu146=
ENST00000353656.10:c.438G>A	ENSP00000487294.1:p.Glu146=
ENST00000381161.5:n.393G>A
ENST00000381163.7:c.438G>A	ENSP00000370555.3:p.Glu146=
ENST00000398806.7:c.345G>A	ENSP00000381786.3:p.Glu115=
ENST00000453106.1:n.116G>A
ENST00000469234.6:n.298G>A
ENST00000520904.3:c.345G>A	ENSP00000430764.1:p.Glu115=
NM_001079855.1:c.345G>A	NP_001073324.1:p.Glu115=
NM_001184702.1:c.345G>A	NP_001171631.1:p.Glu115=
NM_001184703.1:c.438G>A	NP_001171632.1:p.Glu146=
NM_001184704.1:c.-121G>A	NP_001171633.1:n.-121G>A
NM_003918.2:c.438G>A	NP_003909.2:p.Glu146=
XM_006724521.2:c.438G>A	XP_006724584.1:p.Glu146=
XM_011545600.1:c.345G>A	XP_011543902.1:p.Glu115=
XM_011545601.1:c.432G>A	XP_011543903.1:p.Glu144=
XM_011545602.1:c.-121G>A	XP_011543904.1:n.-121G>A
XM_011545600.2:c.345G>A	XP_011543902.1:p.Glu115=
XM_017029927.1:c.438G>A	XP_016885416.1:p.Glu146=
XM_017029928.1:c.438G>A	XP_016885417.1:p.Glu146=
XM_017029929.1:c.438G>A	XP_016885418.1:p.Glu146=
XM_017029930.1:c.345G>A	XP_016885419.1:p.Glu115=
XM_017029931.1:c.345G>A	XP_016885420.1:p.Glu115=
NM_001079855.2:c.345G>A MANE Select	NP_001073324.1:p.Glu115=
NM_001184702.2:c.345G>A	NP_001171631.1:p.Glu115=
NM_001184703.2:c.438G>A	NP_001171632.1:p.Glu146=
NM_001184704.2:c.-121G>A	NP_001171633.1:n.-121G>A
NM_003918.3:c.438G>A	NP_003909.2:p.Glu146=