Canonical Allele Identifier: CA143033137

Gene: BACH2

Linked Data

• dbSNP Id: rs993443890
• gnomAD v2: 6-90640299-C-G
• gnomAD v3: 6-89930580-C-G
• gnomAD v4: 6-89930580-C-G
• MyVariant Identifiers: chr6:g.90640299C>G (hg19) ; chr6:g.89930580C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89930580C>G , CM000668.2:g.89930580C>G	GRCh38
NC_000006.11:g.90640299C>G , CM000668.1:g.90640299C>G	GRCh37
NC_000006.10:g.90697020C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257749.9:c.*1828G>C MANE Select	ENSP00000257749.4:n.*1828G>C
ENST00000257749.8:c.*1828G>C	ENSP00000257749.4:n.*1828G>C
ENST00000537989.5:c.*1828G>C	ENSP00000437473.1:n.*1828G>C
NM_001170794.1:c.*1828G>C	NP_001164265.1:n.*1828G>C
NM_021813.3:c.*1828G>C	NP_068585.1:n.*1828G>C
XM_005248758.3:c.*1828G>C	XP_005248815.1:n.*1828G>C
XM_005248759.3:c.*1828G>C	XP_005248816.1:n.*1828G>C
XM_011536037.1:c.*1828G>C	XP_011534339.1:n.*1828G>C
XM_011536038.1:c.*1828G>C	XP_011534340.1:n.*1828G>C
XM_011536039.1:c.*1828G>C	XP_011534341.1:n.*1828G>C
XM_011536040.1:c.*1828G>C	XP_011534342.1:n.*1828G>C
XM_011536041.1:c.*1828G>C	XP_011534343.1:n.*1828G>C
XM_005248758.5:c.*1828G>C	XP_005248815.1:n.*1828G>C
XM_005248759.5:c.*1828G>C	XP_005248816.1:n.*1828G>C
XM_017011166.2:c.*1828G>C	XP_016866655.1:n.*1828G>C
XM_024446510.1:c.*1828G>C	XP_024302278.1:n.*1828G>C
XM_024446511.1:c.*1828G>C	XP_024302279.1:n.*1828G>C
NM_021813.4:c.*1828G>C MANE Select	NP_068585.1:n.*1828G>C
NM_001170794.2:c.*1828G>C	NP_001164265.1:n.*1828G>C