Canonical Allele Identifier: CA483440359

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 792766
• ClinVar RCV Id: RCV002391015
• dbSNP Id: rs1057520252
• gnomAD v3: 13-32398548-A-T
• gnomAD v4: 13-32398548-A-T
• MyVariant Identifiers: chr13:g.32972685A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398548A>T , CM000675.2:g.32398548A>T	GRCh38
NC_000013.10:g.32972685A>T , CM000675.1:g.32972685A>T	GRCh37
NC_000013.9:g.31870685A>T	NCBI36
NG_012772.3:g.88069A>T , LRG_293:g.88069A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*558A>T	ENSP00000434898.2:n.*558A>T
ENST00000528762.2:c.*1402A>T	ENSP00000433168.2:n.*1402A>T
ENST00000530893.7:c.9666A>T	ENSP00000499438.2:p.Ala3222=
ENST00000665585.2:c.*1597A>T	ENSP00000499570.2:n.*1597A>T
ENST00000700202.2:c.9984A>T	ENSP00000514856.2:p.Ala3328=
ENST00000700202.1:c.2451A>T	ENSP00000514856.1:p.Ala817=
ENST00000700203.1:n.2162A>T
ENST00000380152.8:c.10035A>T MANE Select	ENSP00000369497.3:p.Ala3345=
ENST00000544455.6:c.10035A>T	ENSP00000439902.1:p.Ala3345=
ENST00000614259.2:c.10043A>T	ENSP00000506251.1:n.10043A>T
ENST00000680887.1:c.10035A>T	ENSP00000505508.1:p.Ala3345=
ENST00000380152.7:c.10035A>T	ENSP00000369497.3:p.Ala3345=
ENST00000544455.5:c.10035A>T	ENSP00000439902.1:p.Ala3345=
NM_000059.3:c.10035A>T , LRG_293t1:c.10035A>T	NP_000050.2:p.Ala3345=
XM_011535203.1:c.10035A>T	XP_011533505.1:p.Ala3345=
XM_011535204.1:c.9939A>T	XP_011533506.1:p.Ala3313=
NM_000059.4:c.10035A>T MANE Select	NP_000050.3:p.Ala3345=