Canonical Allele Identifier: CA2679702691

Gene: BACH2

Linked Data

• gnomAD v4: 6-89930673-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89930673T>C , CM000668.2:g.89930673T>C	GRCh38
NC_000006.11:g.90640392T>C , CM000668.1:g.90640392T>C	GRCh37
NC_000006.10:g.90697113T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000257749.9:c.*1735A>G MANE Select	ENSP00000257749.4:n.*1735A>G
ENST00000257749.8:c.*1735A>G	ENSP00000257749.4:n.*1735A>G
ENST00000537989.5:c.*1735A>G	ENSP00000437473.1:n.*1735A>G
NM_001170794.1:c.*1735A>G	NP_001164265.1:n.*1735A>G
NM_021813.3:c.*1735A>G	NP_068585.1:n.*1735A>G
XM_005248758.3:c.*1735A>G	XP_005248815.1:n.*1735A>G
XM_005248759.3:c.*1735A>G	XP_005248816.1:n.*1735A>G
XM_011536037.1:c.*1735A>G	XP_011534339.1:n.*1735A>G
XM_011536038.1:c.*1735A>G	XP_011534340.1:n.*1735A>G
XM_011536039.1:c.*1735A>G	XP_011534341.1:n.*1735A>G
XM_011536040.1:c.*1735A>G	XP_011534342.1:n.*1735A>G
XM_011536041.1:c.*1735A>G	XP_011534343.1:n.*1735A>G
XM_005248758.5:c.*1735A>G	XP_005248815.1:n.*1735A>G
XM_005248759.5:c.*1735A>G	XP_005248816.1:n.*1735A>G
XM_017011166.2:c.*1735A>G	XP_016866655.1:n.*1735A>G
XM_024446510.1:c.*1735A>G	XP_024302278.1:n.*1735A>G
XM_024446511.1:c.*1735A>G	XP_024302279.1:n.*1735A>G
NM_021813.4:c.*1735A>G MANE Select	NP_068585.1:n.*1735A>G
NM_001170794.2:c.*1735A>G	NP_001164265.1:n.*1735A>G