Canonical Allele Identifier: CA370026556
Gene: SLC4A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151072007C>G , CM000669.2:g.151072007C>G GRCh38
NC_000007.13:g.150769094C>G , CM000669.1:g.150769094C>G GRCh37
NC_000007.12:g.150400027C>G NCBI36
NG_051947.1:g.18808C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.2406C>G MANE Select ENSP00000405600.2:p.Phe802Leu
ENST00000677246.1:c.2406C>G ENSP00000504447.1:p.Phe802Leu
ENST00000310317.9:c.2160C>G ENSP00000311402.5:p.Phe720Leu
ENST00000392826.6:c.2379C>G ENSP00000376571.2:p.Phe793Leu
ENST00000413384.6:c.2406C>G ENSP00000405600.2:p.Phe802Leu
ENST00000460010.1:n.343C>G
ENST00000461735.1:c.2364C>G ENSP00000419164.1:p.Phe788Leu
ENST00000472204.1:n.4C>G
ENST00000482697.1:n.175C>G
ENST00000485713.5:c.2406C>G ENSP00000419412.1:p.Phe802Leu
ENST00000493040.5:n.427C>G
NM_001199692.1:c.2406C>G NP_001186621.1:p.Phe802Leu
NM_001199693.1:c.2379C>G NP_001186622.1:p.Phe793Leu
NM_001199694.1:c.2364C>G NP_001186623.1:p.Phe788Leu
NM_003040.3:c.2406C>G NP_003031.3:p.Phe802Leu
XM_011516497.1:c.2406C>G XP_011514799.1:p.Phe802Leu
NM_001199692.2:c.2406C>G NP_001186621.1:p.Phe802Leu
NM_001199694.2:c.2364C>G NP_001186623.1:p.Phe788Leu
NM_003040.4:c.2406C>G MANE Select NP_003031.3:p.Phe802Leu
NM_001199692.3:c.2406C>G NP_001186621.1:p.Phe802Leu