Canonical Allele Identifier: CA829520530

Gene: BACH2

Linked Data

• dbSNP Id: rs1385139475
• gnomAD v3: 6-89930718-A-T
• gnomAD v4: 6-89930718-A-T
• MyVariant Identifiers: chr6:g.90640437A>T (hg19) ; chr6:g.89930718A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.89930718A>T , CM000668.2:g.89930718A>T	GRCh38
NC_000006.11:g.90640437A>T , CM000668.1:g.90640437A>T	GRCh37
NC_000006.10:g.90697158A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000257749.9:c.*1690T>A MANE Select	ENSP00000257749.4:n.*1690T>A
ENST00000257749.8:c.*1690T>A	ENSP00000257749.4:n.*1690T>A
ENST00000537989.5:c.*1690T>A	ENSP00000437473.1:n.*1690T>A
NM_001170794.1:c.*1690T>A	NP_001164265.1:n.*1690T>A
NM_021813.3:c.*1690T>A	NP_068585.1:n.*1690T>A
XM_005248758.3:c.*1690T>A	XP_005248815.1:n.*1690T>A
XM_005248759.3:c.*1690T>A	XP_005248816.1:n.*1690T>A
XM_011536037.1:c.*1690T>A	XP_011534339.1:n.*1690T>A
XM_011536038.1:c.*1690T>A	XP_011534340.1:n.*1690T>A
XM_011536039.1:c.*1690T>A	XP_011534341.1:n.*1690T>A
XM_011536040.1:c.*1690T>A	XP_011534342.1:n.*1690T>A
XM_011536041.1:c.*1690T>A	XP_011534343.1:n.*1690T>A
XM_005248758.5:c.*1690T>A	XP_005248815.1:n.*1690T>A
XM_005248759.5:c.*1690T>A	XP_005248816.1:n.*1690T>A
XM_017011166.2:c.*1690T>A	XP_016866655.1:n.*1690T>A
XM_024446510.1:c.*1690T>A	XP_024302278.1:n.*1690T>A
XM_024446511.1:c.*1690T>A	XP_024302279.1:n.*1690T>A
NM_021813.4:c.*1690T>A MANE Select	NP_068585.1:n.*1690T>A
NM_001170794.2:c.*1690T>A	NP_001164265.1:n.*1690T>A