Canonical Allele Identifier: CA483439943

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1767988
• ClinVar RCV Id: RCV002387043
• dbSNP Id: rs2137663248
• gnomAD v4: 13-32398239-A-T
• MyVariant Identifiers: chr13:g.32972376A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398239A>T , CM000675.2:g.32398239A>T	GRCh38
NC_000013.10:g.32972376A>T , CM000675.1:g.32972376A>T	GRCh37
NC_000013.9:g.31870376A>T	NCBI36
NG_012772.3:g.87760A>T , LRG_293:g.87760A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*249A>T	ENSP00000434898.2:n.*249A>T
ENST00000528762.2:c.*1093A>T	ENSP00000433168.2:n.*1093A>T
ENST00000530893.7:c.9357A>T	ENSP00000499438.2:p.Thr3119=
ENST00000665585.2:c.*1288A>T	ENSP00000499570.2:n.*1288A>T
ENST00000700202.2:c.9675A>T	ENSP00000514856.2:p.Thr3225=
ENST00000700202.1:c.2142A>T	ENSP00000514856.1:p.Thr714=
ENST00000700203.1:n.1853A>T
ENST00000380152.8:c.9726A>T MANE Select	ENSP00000369497.3:p.Thr3242=
ENST00000544455.6:c.9726A>T	ENSP00000439902.1:p.Thr3242=
ENST00000614259.2:c.9734A>T	ENSP00000506251.1:n.9734A>T
ENST00000680887.1:c.9726A>T	ENSP00000505508.1:p.Thr3242=
ENST00000380152.7:c.9726A>T	ENSP00000369497.3:p.Thr3242=
ENST00000470094.1:c.809A>T
ENST00000533776.1:n.314A>T
ENST00000544455.5:c.9726A>T	ENSP00000439902.1:p.Thr3242=
NM_000059.3:c.9726A>T , LRG_293t1:c.9726A>T	NP_000050.2:p.Thr3242=
XM_011535203.1:c.9726A>T	XP_011533505.1:p.Thr3242=
XM_011535204.1:c.9630A>T	XP_011533506.1:p.Thr3210=
NM_000059.4:c.9726A>T MANE Select	NP_000050.3:p.Thr3242=