Canonical Allele Identifier: CA1091690096

Gene: BACH2

Linked Data

• dbSNP Id: rs1776356552
• gnomAD v3: 6-89988388-G-A
• gnomAD v4: 6-89988388-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89988388G>A , CM000668.2:g.89988388G>A	GRCh38
NC_000006.11:g.90698107G>A , CM000668.1:g.90698107G>A	GRCh37
NC_000006.10:g.90754828G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000406998.7:c.243+20214C>T	ENSP00000384145.3:n.243+20214C>T
ENST00000453877.6:c.243+20214C>T	ENSP00000397668.2:n.243+20214C>T
ENST00000695952.1:c.243+20214C>T	ENSP00000512284.1:n.243+20214C>T
ENST00000695953.1:n.1093+20214C>T
ENST00000695954.1:n.336-12485C>T
ENST00000257749.9:c.243+20214C>T MANE Select	ENSP00000257749.4:n.243+20214C>T
ENST00000257749.8:c.243+20214C>T	ENSP00000257749.4:n.243+20214C>T
ENST00000343122.7:c.243+20214C>T	ENSP00000345642.3:n.243+20214C>T
ENST00000537989.5:c.243+20214C>T	ENSP00000437473.1:n.243+20214C>T
NM_001170794.1:c.243+20214C>T	NP_001164265.1:n.243+20214C>T
NM_021813.3:c.243+20214C>T	NP_068585.1:n.243+20214C>T
XM_005248758.3:c.351+20214C>T	XP_005248815.1:n.351+20214C>T
XM_005248759.3:c.243+20214C>T	XP_005248816.1:n.243+20214C>T
XM_011536037.1:c.243+20214C>T	XP_011534339.1:n.243+20214C>T
XM_011536038.1:c.243+20214C>T	XP_011534340.1:n.243+20214C>T
XM_011536039.1:c.243+20214C>T	XP_011534341.1:n.243+20214C>T
XM_011536040.1:c.243+20214C>T	XP_011534342.1:n.243+20214C>T
XM_011536041.1:c.243+20214C>T	XP_011534343.1:n.243+20214C>T
XM_011536042.1:c.549+20214C>T	XP_011534344.1:n.549+20214C>T
XM_011536043.1:c.549+20214C>T	XP_011534345.1:n.549+20214C>T
XM_005248758.5:c.351+20214C>T	XP_005248815.1:n.351+20214C>T
XM_005248759.5:c.243+20214C>T	XP_005248816.1:n.243+20214C>T
XM_011536039.3:c.243+20214C>T	XP_011534341.1:n.243+20214C>T
XM_011536040.2:c.243+20214C>T	XP_011534342.1:n.243+20214C>T
XM_017011166.2:c.243+20214C>T	XP_016866655.1:n.243+20214C>T
XM_017011167.2:c.501+20214C>T	XP_016866656.1:n.501+20214C>T
XM_024446510.1:c.501+20214C>T	XP_024302278.1:n.501+20214C>T
XM_024446511.1:c.501+20214C>T	XP_024302279.1:n.501+20214C>T
XM_024446513.1:c.243+20214C>T	XP_024302281.1:n.243+20214C>T
NM_021813.4:c.243+20214C>T MANE Select	NP_068585.1:n.243+20214C>T
NM_001170794.2:c.243+20214C>T	NP_001164265.1:n.243+20214C>T