Canonical Allele Identifier: CA1752500404
Gene: SLC4A2 HGNC NCBI

Linked Data

dbSNP Id: rs1797158432

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064436G>C , CM000669.2:g.151064436G>C GRCh38
NC_000007.13:g.150761523G>C , CM000669.1:g.150761523G>C GRCh37
NC_000007.12:g.150392456G>C NCBI36
NG_051947.1:g.11237G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.217+69G>C MANE Select ENSP00000405600.2:n.217+69G>C
ENST00000677246.1:c.217+69G>C ENSP00000504447.1:n.217+69G>C
ENST00000310317.9:c.52-169G>C ENSP00000311402.5:n.52-169G>C
ENST00000392826.6:c.190+69G>C ENSP00000376571.2:n.190+69G>C
ENST00000413384.6:c.217+69G>C ENSP00000405600.2:n.217+69G>C
ENST00000461735.1:c.175+69G>C ENSP00000419164.1:n.175+69G>C
ENST00000463414.5:c.217+69G>C ENSP00000418584.1:n.217+69G>C
ENST00000482950.5:c.217+69G>C ENSP00000419379.1:n.217+69G>C
ENST00000483786.5:c.217+69G>C ENSP00000417808.1:n.217+69G>C
ENST00000485713.5:c.217+69G>C ENSP00000419412.1:n.217+69G>C
ENST00000490898.5:c.217+69G>C ENSP00000418114.1:n.217+69G>C
ENST00000494125.1:n.521G>C
NM_001199692.1:c.217+69G>C NP_001186621.1:n.217+69G>C
NM_001199693.1:c.190+69G>C NP_001186622.1:n.190+69G>C
NM_001199694.1:c.175+69G>C NP_001186623.1:n.175+69G>C
NM_003040.3:c.217+69G>C NP_003031.3:n.217+69G>C
XM_006716094.2:c.217+69G>C XP_006716157.1:n.217+69G>C
XM_011516497.1:c.217+69G>C XP_011514799.1:n.217+69G>C
NM_001199692.2:c.217+69G>C NP_001186621.1:n.217+69G>C
NM_001199694.2:c.175+69G>C NP_001186623.1:n.175+69G>C
XM_006716094.3:c.217+69G>C XP_006716157.1:n.217+69G>C
NM_003040.4:c.217+69G>C MANE Select NP_003031.3:n.217+69G>C
NM_001199692.3:c.217+69G>C NP_001186621.1:n.217+69G>C