Canonical Allele Identifier: CA1752500347
Gene: SLC4A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064340C= , CM000669.2:g.151064340C= GRCh38
NC_000007.13:g.150761427C= , CM000669.1:g.150761427C= GRCh37
NC_000007.12:g.150392360C= NCBI36
NG_051947.1:g.11141C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.190C= MANE Select ENSP00000405600.2:p.Arg64=
ENST00000677246.1:c.190C= ENSP00000504447.1:p.Arg64=
ENST00000310317.9:c.52-265C= ENSP00000311402.5:n.52-265C=
ENST00000392826.6:c.163C= ENSP00000376571.2:p.Arg55=
ENST00000413384.6:c.190C= ENSP00000405600.2:p.Arg64=
ENST00000461735.1:c.148C= ENSP00000419164.1:p.Arg50=
ENST00000463414.5:c.190C= ENSP00000418584.1:p.Arg64=
ENST00000482950.5:c.190C= ENSP00000419379.1:p.Arg64=
ENST00000483786.5:c.190C= ENSP00000417808.1:p.Arg64=
ENST00000485713.5:c.190C= ENSP00000419412.1:p.Arg64=
ENST00000488420.1:c.190C= ENSP00000417221.1:p.Arg64=
ENST00000490898.5:c.190C= ENSP00000418114.1:p.Arg64=
ENST00000494125.1:n.425C=
NM_001199692.1:c.190C= NP_001186621.1:p.Arg64=
NM_001199693.1:c.163C= NP_001186622.1:p.Arg55=
NM_001199694.1:c.148C= NP_001186623.1:p.Arg50=
NM_003040.3:c.190C= NP_003031.3:p.Arg64=
XM_006716094.2:c.190C= XP_006716157.1:p.Arg64=
XM_011516497.1:c.190C= XP_011514799.1:p.Arg64=
NM_001199692.2:c.190C= NP_001186621.1:p.Arg64=
NM_001199694.2:c.148C= NP_001186623.1:p.Arg50=
XM_006716094.3:c.190C= XP_006716157.1:p.Arg64=
NM_003040.4:c.190C= MANE Select NP_003031.3:p.Arg64=
NM_001199692.3:c.190C= NP_001186621.1:p.Arg64=