Canonical Allele Identifier: CA458875866
Gene: SLC4A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150761417G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064330G>A , CM000669.2:g.151064330G>A GRCh38
NC_000007.13:g.150761417G>A , CM000669.1:g.150761417G>A GRCh37
NC_000007.12:g.150392350G>A NCBI36
NG_051947.1:g.11131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.180G>A MANE Select ENSP00000405600.2:p.Glu60=
ENST00000677246.1:c.180G>A ENSP00000504447.1:p.Glu60=
ENST00000310317.9:c.52-275G>A ENSP00000311402.5:n.52-275G>A
ENST00000392826.6:c.153G>A ENSP00000376571.2:p.Glu51=
ENST00000413384.6:c.180G>A ENSP00000405600.2:p.Glu60=
ENST00000461735.1:c.138G>A ENSP00000419164.1:p.Glu46=
ENST00000463414.5:c.180G>A ENSP00000418584.1:p.Glu60=
ENST00000482950.5:c.180G>A ENSP00000419379.1:p.Glu60=
ENST00000483786.5:c.180G>A ENSP00000417808.1:p.Glu60=
ENST00000485713.5:c.180G>A ENSP00000419412.1:p.Glu60=
ENST00000488420.1:c.180G>A ENSP00000417221.1:p.Glu60=
ENST00000490898.5:c.180G>A ENSP00000418114.1:p.Glu60=
ENST00000494125.1:n.415G>A
NM_001199692.1:c.180G>A NP_001186621.1:p.Glu60=
NM_001199693.1:c.153G>A NP_001186622.1:p.Glu51=
NM_001199694.1:c.138G>A NP_001186623.1:p.Glu46=
NM_003040.3:c.180G>A NP_003031.3:p.Glu60=
XM_006716094.2:c.180G>A XP_006716157.1:p.Glu60=
XM_011516497.1:c.180G>A XP_011514799.1:p.Glu60=
NM_001199692.2:c.180G>A NP_001186621.1:p.Glu60=
NM_001199694.2:c.138G>A NP_001186623.1:p.Glu46=
XM_006716094.3:c.180G>A XP_006716157.1:p.Glu60=
NM_003040.4:c.180G>A MANE Select NP_003031.3:p.Glu60=
NM_001199692.3:c.180G>A NP_001186621.1:p.Glu60=