Canonical Allele Identifier: CA370026890

Gene: SLC4A2

Linked Data

• MyVariant Identifiers: chr7:g.150769175C>G (hg19) ; chr7:g.151072088C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.151072088C>G , CM000669.2:g.151072088C>G	GRCh38
NC_000007.13:g.150769175C>G , CM000669.1:g.150769175C>G	GRCh37
NC_000007.12:g.150400108C>G	NCBI36
NG_051947.1:g.18889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413384.7:c.2487C>G MANE Select	ENSP00000405600.2:p.Phe829Leu
ENST00000677246.1:c.2487C>G	ENSP00000504447.1:p.Phe829Leu
ENST00000310317.9:c.2241C>G	ENSP00000311402.5:p.Phe747Leu
ENST00000392826.6:c.2460C>G	ENSP00000376571.2:p.Phe820Leu
ENST00000413384.6:c.2487C>G	ENSP00000405600.2:p.Phe829Leu
ENST00000460010.1:n.424C>G
ENST00000461735.1:c.2445C>G	ENSP00000419164.1:p.Phe815Leu
ENST00000472204.1:n.85C>G
ENST00000482697.1:n.256C>G
ENST00000485713.5:c.2487C>G	ENSP00000419412.1:p.Phe829Leu
ENST00000493040.5:n.508C>G
NM_001199692.1:c.2487C>G	NP_001186621.1:p.Phe829Leu
NM_001199693.1:c.2460C>G	NP_001186622.1:p.Phe820Leu
NM_001199694.1:c.2445C>G	NP_001186623.1:p.Phe815Leu
NM_003040.3:c.2487C>G	NP_003031.3:p.Phe829Leu
XM_011516497.1:c.2487C>G	XP_011514799.1:p.Phe829Leu
NM_001199692.2:c.2487C>G	NP_001186621.1:p.Phe829Leu
NM_001199694.2:c.2445C>G	NP_001186623.1:p.Phe815Leu
NM_003040.4:c.2487C>G MANE Select	NP_003031.3:p.Phe829Leu
NM_001199692.3:c.2487C>G	NP_001186621.1:p.Phe829Leu