Canonical Allele Identifier: CA2527772197
Gene: SLC4A2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064395_151064396insC , CM000669.2:g.151064395_151064396insC GRCh38
NC_000007.13:g.150761482_150761483insC , CM000669.1:g.150761482_150761483insC GRCh37
NC_000007.12:g.150392415_150392416insC NCBI36
NG_051947.1:g.11196_11197insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.217+28_217+29insC MANE Select ENSP00000405600.2:n.217+28_217+29insC
ENST00000677246.1:c.217+28_217+29insC ENSP00000504447.1:n.217+28_217+29insC
ENST00000310317.9:c.52-210_52-209insC ENSP00000311402.5:n.52-210_52-209insC
ENST00000392826.6:c.190+28_190+29insC ENSP00000376571.2:n.190+28_190+29insC
ENST00000413384.6:c.217+28_217+29insC ENSP00000405600.2:n.217+28_217+29insC
ENST00000461735.1:c.175+28_175+29insC ENSP00000419164.1:n.175+28_175+29insC
ENST00000463414.5:c.217+28_217+29insC ENSP00000418584.1:n.217+28_217+29insC
ENST00000482950.5:c.217+28_217+29insC ENSP00000419379.1:n.217+28_217+29insC
ENST00000483786.5:c.217+28_217+29insC ENSP00000417808.1:n.217+28_217+29insC
ENST00000485713.5:c.217+28_217+29insC ENSP00000419412.1:n.217+28_217+29insC
ENST00000490898.5:c.217+28_217+29insC ENSP00000418114.1:n.217+28_217+29insC
ENST00000494125.1:n.480_481insC
NM_001199692.1:c.217+28_217+29insC NP_001186621.1:n.217+28_217+29insC
NM_001199693.1:c.190+28_190+29insC NP_001186622.1:n.190+28_190+29insC
NM_001199694.1:c.175+28_175+29insC NP_001186623.1:n.175+28_175+29insC
NM_003040.3:c.217+28_217+29insC NP_003031.3:n.217+28_217+29insC
XM_006716094.2:c.217+28_217+29insC XP_006716157.1:n.217+28_217+29insC
XM_011516497.1:c.217+28_217+29insC XP_011514799.1:n.217+28_217+29insC
NM_001199692.2:c.217+28_217+29insC NP_001186621.1:n.217+28_217+29insC
NM_001199694.2:c.175+28_175+29insC NP_001186623.1:n.175+28_175+29insC
XM_006716094.3:c.217+28_217+29insC XP_006716157.1:n.217+28_217+29insC
NM_003040.4:c.217+28_217+29insC MANE Select NP_003031.3:n.217+28_217+29insC
NM_001199692.3:c.217+28_217+29insC NP_001186621.1:n.217+28_217+29insC