Canonical Allele Identifier: CA370007890

Gene: SLC4A2

Linked Data

• MyVariant Identifiers: chr7:g.150761376T>A (hg19) ; chr7:g.151064289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151064289T>A , CM000669.2:g.151064289T>A	GRCh38
NC_000007.13:g.150761376T>A , CM000669.1:g.150761376T>A	GRCh37
NC_000007.12:g.150392309T>A	NCBI36
NG_051947.1:g.11090T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.139T>A MANE Select	ENSP00000405600.2:p.Phe47Ile
ENST00000677246.1:c.139T>A	ENSP00000504447.1:p.Phe47Ile
ENST00000310317.9:c.52-316T>A	ENSP00000311402.5:n.52-316T>A
ENST00000392826.6:c.112T>A	ENSP00000376571.2:p.Phe38Ile
ENST00000413384.6:c.139T>A	ENSP00000405600.2:p.Phe47Ile
ENST00000461735.1:c.97T>A	ENSP00000419164.1:p.Phe33Ile
ENST00000463414.5:c.139T>A	ENSP00000418584.1:p.Phe47Ile
ENST00000482950.5:c.139T>A	ENSP00000419379.1:p.Phe47Ile
ENST00000483786.5:c.139T>A	ENSP00000417808.1:p.Phe47Ile
ENST00000485713.5:c.139T>A	ENSP00000419412.1:p.Phe47Ile
ENST00000488420.1:c.139T>A	ENSP00000417221.1:p.Phe47Ile
ENST00000490898.5:c.139T>A	ENSP00000418114.1:p.Phe47Ile
ENST00000494125.1:n.374T>A
NM_001199692.1:c.139T>A	NP_001186621.1:p.Phe47Ile
NM_001199693.1:c.112T>A	NP_001186622.1:p.Phe38Ile
NM_001199694.1:c.97T>A	NP_001186623.1:p.Phe33Ile
NM_003040.3:c.139T>A	NP_003031.3:p.Phe47Ile
XM_006716094.2:c.139T>A	XP_006716157.1:p.Phe47Ile
XM_011516497.1:c.139T>A	XP_011514799.1:p.Phe47Ile
NM_001199692.2:c.139T>A	NP_001186621.1:p.Phe47Ile
NM_001199694.2:c.97T>A	NP_001186623.1:p.Phe33Ile
XM_006716094.3:c.139T>A	XP_006716157.1:p.Phe47Ile
NM_003040.4:c.139T>A MANE Select	NP_003031.3:p.Phe47Ile
NM_001199692.3:c.139T>A	NP_001186621.1:p.Phe47Ile