Canonical Allele Identifier: CA458645852

Gene: SLC4A2

Linked Data

• gnomAD v4: 7-151072085-C-A
• MyVariant Identifiers: chr7:g.150769172C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151072085C>A , CM000669.2:g.151072085C>A	GRCh38
NC_000007.13:g.150769172C>A , CM000669.1:g.150769172C>A	GRCh37
NC_000007.12:g.150400105C>A	NCBI36
NG_051947.1:g.18886C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.2484C>A MANE Select	ENSP00000405600.2:p.Ala828=
ENST00000677246.1:c.2484C>A	ENSP00000504447.1:p.Ala828=
ENST00000310317.9:c.2238C>A	ENSP00000311402.5:p.Ala746=
ENST00000392826.6:c.2457C>A	ENSP00000376571.2:p.Ala819=
ENST00000413384.6:c.2484C>A	ENSP00000405600.2:p.Ala828=
ENST00000460010.1:n.421C>A
ENST00000461735.1:c.2442C>A	ENSP00000419164.1:p.Ala814=
ENST00000472204.1:n.82C>A
ENST00000482697.1:n.253C>A
ENST00000485713.5:c.2484C>A	ENSP00000419412.1:p.Ala828=
ENST00000493040.5:n.505C>A
NM_001199692.1:c.2484C>A	NP_001186621.1:p.Ala828=
NM_001199693.1:c.2457C>A	NP_001186622.1:p.Ala819=
NM_001199694.1:c.2442C>A	NP_001186623.1:p.Ala814=
NM_003040.3:c.2484C>A	NP_003031.3:p.Ala828=
XM_011516497.1:c.2484C>A	XP_011514799.1:p.Ala828=
NM_001199692.2:c.2484C>A	NP_001186621.1:p.Ala828=
NM_001199694.2:c.2442C>A	NP_001186623.1:p.Ala814=
NM_003040.4:c.2484C>A MANE Select	NP_003031.3:p.Ala828=
NM_001199692.3:c.2484C>A	NP_001186621.1:p.Ala828=