Canonical Allele Identifier: CA1752500345
Gene: SLC4A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064321T= , CM000669.2:g.151064321T= GRCh38
NC_000007.13:g.150761408T= , CM000669.1:g.150761408T= GRCh37
NC_000007.12:g.150392341T= NCBI36
NG_051947.1:g.11122T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.171T= MANE Select ENSP00000405600.2:p.Arg57=
ENST00000677246.1:c.171T= ENSP00000504447.1:p.Arg57=
ENST00000310317.9:c.52-284T= ENSP00000311402.5:n.52-284T=
ENST00000392826.6:c.144T= ENSP00000376571.2:p.Arg48=
ENST00000413384.6:c.171T= ENSP00000405600.2:p.Arg57=
ENST00000461735.1:c.129T= ENSP00000419164.1:p.Arg43=
ENST00000463414.5:c.171T= ENSP00000418584.1:p.Arg57=
ENST00000482950.5:c.171T= ENSP00000419379.1:p.Arg57=
ENST00000483786.5:c.171T= ENSP00000417808.1:p.Arg57=
ENST00000485713.5:c.171T= ENSP00000419412.1:p.Arg57=
ENST00000488420.1:c.171T= ENSP00000417221.1:p.Arg57=
ENST00000490898.5:c.171T= ENSP00000418114.1:p.Arg57=
ENST00000494125.1:n.406T=
NM_001199692.1:c.171T= NP_001186621.1:p.Arg57=
NM_001199693.1:c.144T= NP_001186622.1:p.Arg48=
NM_001199694.1:c.129T= NP_001186623.1:p.Arg43=
NM_003040.3:c.171T= NP_003031.3:p.Arg57=
XM_006716094.2:c.171T= XP_006716157.1:p.Arg57=
XM_011516497.1:c.171T= XP_011514799.1:p.Arg57=
NM_001199692.2:c.171T= NP_001186621.1:p.Arg57=
NM_001199694.2:c.129T= NP_001186623.1:p.Arg43=
XM_006716094.3:c.171T= XP_006716157.1:p.Arg57=
NM_003040.4:c.171T= MANE Select NP_003031.3:p.Arg57=
NM_001199692.3:c.171T= NP_001186621.1:p.Arg57=