Canonical Allele Identifier: CA143346308

Gene: BACH2

Linked Data

• dbSNP Id: rs754370754
• gnomAD v2: 6-90698359-A-G
• gnomAD v3: 6-89988640-A-G
• gnomAD v4: 6-89988640-A-G
• MyVariant Identifiers: chr6:g.90698359A>G (hg19) ; chr6:g.89988640A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89988640A>G , CM000668.2:g.89988640A>G	GRCh38
NC_000006.11:g.90698359A>G , CM000668.1:g.90698359A>G	GRCh37
NC_000006.10:g.90755080A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000406998.7:c.243+19962T>C	ENSP00000384145.3:n.243+19962T>C
ENST00000453877.6:c.243+19962T>C	ENSP00000397668.2:n.243+19962T>C
ENST00000695952.1:c.243+19962T>C	ENSP00000512284.1:n.243+19962T>C
ENST00000695953.1:n.1093+19962T>C
ENST00000695954.1:n.336-12737T>C
ENST00000257749.9:c.243+19962T>C MANE Select	ENSP00000257749.4:n.243+19962T>C
ENST00000257749.8:c.243+19962T>C	ENSP00000257749.4:n.243+19962T>C
ENST00000343122.7:c.243+19962T>C	ENSP00000345642.3:n.243+19962T>C
ENST00000537989.5:c.243+19962T>C	ENSP00000437473.1:n.243+19962T>C
NM_001170794.1:c.243+19962T>C	NP_001164265.1:n.243+19962T>C
NM_021813.3:c.243+19962T>C	NP_068585.1:n.243+19962T>C
XM_005248758.3:c.351+19962T>C	XP_005248815.1:n.351+19962T>C
XM_005248759.3:c.243+19962T>C	XP_005248816.1:n.243+19962T>C
XM_011536037.1:c.243+19962T>C	XP_011534339.1:n.243+19962T>C
XM_011536038.1:c.243+19962T>C	XP_011534340.1:n.243+19962T>C
XM_011536039.1:c.243+19962T>C	XP_011534341.1:n.243+19962T>C
XM_011536040.1:c.243+19962T>C	XP_011534342.1:n.243+19962T>C
XM_011536041.1:c.243+19962T>C	XP_011534343.1:n.243+19962T>C
XM_011536042.1:c.549+19962T>C	XP_011534344.1:n.549+19962T>C
XM_011536043.1:c.549+19962T>C	XP_011534345.1:n.549+19962T>C
XM_005248758.5:c.351+19962T>C	XP_005248815.1:n.351+19962T>C
XM_005248759.5:c.243+19962T>C	XP_005248816.1:n.243+19962T>C
XM_011536039.3:c.243+19962T>C	XP_011534341.1:n.243+19962T>C
XM_011536040.2:c.243+19962T>C	XP_011534342.1:n.243+19962T>C
XM_017011166.2:c.243+19962T>C	XP_016866655.1:n.243+19962T>C
XM_017011167.2:c.501+19962T>C	XP_016866656.1:n.501+19962T>C
XM_024446510.1:c.501+19962T>C	XP_024302278.1:n.501+19962T>C
XM_024446511.1:c.501+19962T>C	XP_024302279.1:n.501+19962T>C
XM_024446513.1:c.243+19962T>C	XP_024302281.1:n.243+19962T>C
NM_021813.4:c.243+19962T>C MANE Select	NP_068585.1:n.243+19962T>C
NM_001170794.2:c.243+19962T>C	NP_001164265.1:n.243+19962T>C