Canonical Allele Identifier: CA370026923

Gene: SLC4A2

Linked Data

• MyVariant Identifiers: chr7:g.150769182T>C (hg19) ; chr7:g.151072095T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151072095T>C , CM000669.2:g.151072095T>C	GRCh38
NC_000007.13:g.150769182T>C , CM000669.1:g.150769182T>C	GRCh37
NC_000007.12:g.150400115T>C	NCBI36
NG_051947.1:g.18896T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.2494T>C MANE Select	ENSP00000405600.2:p.Ser832Pro
ENST00000677246.1:c.2494T>C	ENSP00000504447.1:p.Ser832Pro
ENST00000310317.9:c.2248T>C	ENSP00000311402.5:p.Ser750Pro
ENST00000392826.6:c.2467T>C	ENSP00000376571.2:p.Ser823Pro
ENST00000413384.6:c.2494T>C	ENSP00000405600.2:p.Ser832Pro
ENST00000460010.1:n.431T>C
ENST00000461735.1:c.2452T>C	ENSP00000419164.1:p.Ser818Pro
ENST00000472204.1:n.92T>C
ENST00000482697.1:n.263T>C
ENST00000485713.5:c.2494T>C	ENSP00000419412.1:p.Ser832Pro
ENST00000493040.5:n.515T>C
NM_001199692.1:c.2494T>C	NP_001186621.1:p.Ser832Pro
NM_001199693.1:c.2467T>C	NP_001186622.1:p.Ser823Pro
NM_001199694.1:c.2452T>C	NP_001186623.1:p.Ser818Pro
NM_003040.3:c.2494T>C	NP_003031.3:p.Ser832Pro
XM_011516497.1:c.2494T>C	XP_011514799.1:p.Ser832Pro
NM_001199692.2:c.2494T>C	NP_001186621.1:p.Ser832Pro
NM_001199694.2:c.2452T>C	NP_001186623.1:p.Ser818Pro
NM_003040.4:c.2494T>C MANE Select	NP_003031.3:p.Ser832Pro
NM_001199692.3:c.2494T>C	NP_001186621.1:p.Ser832Pro