Canonical Allele Identifier: CA458645739
Gene: SLC4A2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr7:g.150769095C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151072008C>T , CM000669.2:g.151072008C>T GRCh38
NC_000007.13:g.150769095C>T , CM000669.1:g.150769095C>T GRCh37
NC_000007.12:g.150400028C>T NCBI36
NG_051947.1:g.18809C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.2407C>T MANE Select ENSP00000405600.2:p.Leu803=
ENST00000677246.1:c.2407C>T ENSP00000504447.1:p.Leu803=
ENST00000310317.9:c.2161C>T ENSP00000311402.5:p.Leu721=
ENST00000392826.6:c.2380C>T ENSP00000376571.2:p.Leu794=
ENST00000413384.6:c.2407C>T ENSP00000405600.2:p.Leu803=
ENST00000460010.1:n.344C>T
ENST00000461735.1:c.2365C>T ENSP00000419164.1:p.Leu789=
ENST00000472204.1:n.5C>T
ENST00000482697.1:n.176C>T
ENST00000485713.5:c.2407C>T ENSP00000419412.1:p.Leu803=
ENST00000493040.5:n.428C>T
NM_001199692.1:c.2407C>T NP_001186621.1:p.Leu803=
NM_001199693.1:c.2380C>T NP_001186622.1:p.Leu794=
NM_001199694.1:c.2365C>T NP_001186623.1:p.Leu789=
NM_003040.3:c.2407C>T NP_003031.3:p.Leu803=
XM_011516497.1:c.2407C>T XP_011514799.1:p.Leu803=
NM_001199692.2:c.2407C>T NP_001186621.1:p.Leu803=
NM_001199694.2:c.2365C>T NP_001186623.1:p.Leu789=
NM_003040.4:c.2407C>T MANE Select NP_003031.3:p.Leu803=
NM_001199692.3:c.2407C>T NP_001186621.1:p.Leu803=