Canonical Allele Identifier: CA365027518
Gene: BACH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1977885
ClinVar RCV Id: RCV002750853
dbSNP Id: rs1346571372
gnomAD v2: 6-90642492-C-T
gnomAD v4: 6-89932773-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.89932773C>T , CM000668.2:g.89932773C>T GRCh38
NC_000006.11:g.90642492C>T , CM000668.1:g.90642492C>T GRCh37
NC_000006.10:g.90699213C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000406998.7:c.2161G>A ENSP00000384145.3:p.Glu721Lys
ENST00000453877.6:c.2161G>A ENSP00000397668.2:p.Glu721Lys
ENST00000695952.1:c.2161G>A ENSP00000512284.1:p.Glu721Lys
ENST00000257749.9:c.2161G>A MANE Select ENSP00000257749.4:p.Glu721Lys
ENST00000257749.8:c.2161G>A ENSP00000257749.4:p.Glu721Lys
ENST00000343122.7:c.2161G>A ENSP00000345642.3:p.Glu721Lys
ENST00000537989.5:c.2161G>A ENSP00000437473.1:p.Glu721Lys
NM_001170794.1:c.2161G>A NP_001164265.1:p.Glu721Lys
NM_021813.3:c.2161G>A NP_068585.1:p.Glu721Lys
XM_005248758.3:c.2269G>A XP_005248815.1:p.Glu757Lys
XM_005248759.3:c.2161G>A XP_005248816.1:p.Glu721Lys
XM_011536037.1:c.2161G>A XP_011534339.1:p.Glu721Lys
XM_011536038.1:c.2161G>A XP_011534340.1:p.Glu721Lys
XM_011536039.1:c.2161G>A XP_011534341.1:p.Glu721Lys
XM_011536040.1:c.2161G>A XP_011534342.1:p.Glu721Lys
XM_011536041.1:c.2161G>A XP_011534343.1:p.Glu721Lys
XM_005248758.5:c.2269G>A XP_005248815.1:p.Glu757Lys
XM_005248759.5:c.2161G>A XP_005248816.1:p.Glu721Lys
XM_011536039.3:c.2161G>A XP_011534341.1:p.Glu721Lys
XM_011536040.2:c.2161G>A XP_011534342.1:p.Glu721Lys
XM_017011166.2:c.2161G>A XP_016866655.1:p.Glu721Lys
XM_024446510.1:c.2419G>A XP_024302278.1:p.Glu807Lys
XM_024446511.1:c.2419G>A XP_024302279.1:p.Glu807Lys
XM_024446513.1:c.2161G>A XP_024302281.1:p.Glu721Lys
NM_021813.4:c.2161G>A MANE Select NP_068585.1:p.Glu721Lys
NM_001170794.2:c.2161G>A NP_001164265.1:p.Glu721Lys