Canonical Allele Identifier: CA1752479630

Gene: SLC4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151072091G= , CM000669.2:g.151072091G=	GRCh38
NC_000007.13:g.150769178G= , CM000669.1:g.150769178G=	GRCh37
NC_000007.12:g.150400111G=	NCBI36
NG_051947.1:g.18892G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.2490G= MANE Select	ENSP00000405600.2:p.Leu830=
ENST00000677246.1:c.2490G=	ENSP00000504447.1:p.Leu830=
ENST00000310317.9:c.2244G=	ENSP00000311402.5:p.Leu748=
ENST00000392826.6:c.2463G=	ENSP00000376571.2:p.Leu821=
ENST00000413384.6:c.2490G=	ENSP00000405600.2:p.Leu830=
ENST00000460010.1:n.427G=
ENST00000461735.1:c.2448G=	ENSP00000419164.1:p.Leu816=
ENST00000472204.1:n.88G=
ENST00000482697.1:n.259G=
ENST00000485713.5:c.2490G=	ENSP00000419412.1:p.Leu830=
ENST00000493040.5:n.511G=
NM_001199692.1:c.2490G=	NP_001186621.1:p.Leu830=
NM_001199693.1:c.2463G=	NP_001186622.1:p.Leu821=
NM_001199694.1:c.2448G=	NP_001186623.1:p.Leu816=
NM_003040.3:c.2490G=	NP_003031.3:p.Leu830=
XM_011516497.1:c.2490G=	XP_011514799.1:p.Leu830=
NM_001199692.2:c.2490G=	NP_001186621.1:p.Leu830=
NM_001199694.2:c.2448G=	NP_001186623.1:p.Leu816=
NM_003040.4:c.2490G= MANE Select	NP_003031.3:p.Leu830=
NM_001199692.3:c.2490G=	NP_001186621.1:p.Leu830=