Canonical Allele Identifier: CA2685635446
Gene: SLC4A2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151064369_151064370del , CM000669.2:g.151064369_151064370del GRCh38
NC_000007.13:g.150761456_150761457del , CM000669.1:g.150761456_150761457del GRCh37
NC_000007.12:g.150392389_150392390del NCBI36
NG_051947.1:g.11170_11171del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413384.7:c.217+2_217+3del
ENST00000677246.1:c.217+2_217+3del
ENST00000310317.9:c.52-236_52-235del ENSP00000311402.5:n.52-236_52-235del
ENST00000392826.6:c.190+2_190+3del
ENST00000413384.6:c.217+2_217+3del
ENST00000461735.1:c.175+2_175+3del
ENST00000463414.5:c.217+2_217+3del
ENST00000482950.5:c.217+2_217+3del
ENST00000483786.5:c.217+2_217+3del
ENST00000485713.5:c.217+2_217+3del
ENST00000490898.5:c.217+2_217+3del
ENST00000494125.1:n.454_455del
NM_001199692.1:c.217+2_217+3del
NM_001199693.1:c.190+2_190+3del
NM_001199694.1:c.175+2_175+3del
NM_003040.3:c.217+2_217+3del
XM_006716094.2:c.217+2_217+3del
XM_011516497.1:c.217+2_217+3del
NM_001199692.2:c.217+2_217+3del
NM_001199694.2:c.175+2_175+3del
XM_006716094.3:c.217+2_217+3del
NM_003040.4:c.217+2_217+3del
NM_001199692.3:c.217+2_217+3del