Canonical Allele Identifier: CA4571399

Gene: SLC4A2

Linked Data

• ClinVar Variation Id: 2566724
• ClinVar RCV Id: RCV003306701
• dbSNP Id: rs746816423
• ExAC: 7:150769150 G / A
• gnomAD v2: 7-150769150-G-A
• gnomAD v3: 7-151072063-G-A
• gnomAD v4: 7-151072063-G-A
• MyVariant Identifiers: chr7:g.150769150G>A (hg19) ; chr7:g.151072063G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151072063G>A , CM000669.2:g.151072063G>A	GRCh38
NC_000007.13:g.150769150G>A , CM000669.1:g.150769150G>A	GRCh37
NC_000007.12:g.150400083G>A	NCBI36
NG_051947.1:g.18864G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000413384.7:c.2462G>A MANE Select	ENSP00000405600.2:p.Arg821His
ENST00000677246.1:c.2462G>A	ENSP00000504447.1:p.Arg821His
ENST00000310317.9:c.2216G>A	ENSP00000311402.5:p.Arg739His
ENST00000392826.6:c.2435G>A	ENSP00000376571.2:p.Arg812His
ENST00000413384.6:c.2462G>A	ENSP00000405600.2:p.Arg821His
ENST00000460010.1:n.399G>A
ENST00000461735.1:c.2420G>A	ENSP00000419164.1:p.Arg807His
ENST00000472204.1:n.60G>A
ENST00000482697.1:n.231G>A
ENST00000485713.5:c.2462G>A	ENSP00000419412.1:p.Arg821His
ENST00000493040.5:n.483G>A
NM_001199692.1:c.2462G>A	NP_001186621.1:p.Arg821His
NM_001199693.1:c.2435G>A	NP_001186622.1:p.Arg812His
NM_001199694.1:c.2420G>A	NP_001186623.1:p.Arg807His
NM_003040.3:c.2462G>A	NP_003031.3:p.Arg821His
XM_011516497.1:c.2462G>A	XP_011514799.1:p.Arg821His
NM_001199692.2:c.2462G>A	NP_001186621.1:p.Arg821His
NM_001199694.2:c.2420G>A	NP_001186623.1:p.Arg807His
NM_003040.4:c.2462G>A MANE Select	NP_003031.3:p.Arg821His
NM_001199692.3:c.2462G>A	NP_001186621.1:p.Arg821His