Canonical Allele Identifier: CA026351

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 141904
• ClinVar RCV Id: RCV000130611 ; RCV000434493 ; RCV001342071
• dbSNP Id: rs587782098
• MyVariant Identifiers: chr13:g.32972631A>T (hg19) ; chr13:g.32398494A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398494A>T , CM000675.2:g.32398494A>T	GRCh38
NC_000013.10:g.32972631A>T , CM000675.1:g.32972631A>T	GRCh37
NC_000013.9:g.31870631A>T	NCBI36
NG_012772.3:g.88015A>T , LRG_293:g.88015A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*504A>T	ENSP00000434898.2:n.*504A>T
ENST00000528762.2:c.*1348A>T	ENSP00000433168.2:n.*1348A>T
ENST00000530893.7:c.9612A>T	ENSP00000499438.2:p.Lys3204Asn
ENST00000665585.2:c.*1543A>T	ENSP00000499570.2:n.*1543A>T
ENST00000700202.2:c.9930A>T	ENSP00000514856.2:p.Lys3310Asn
ENST00000700202.1:c.2397A>T	ENSP00000514856.1:p.Lys799Asn
ENST00000700203.1:n.2108A>T
ENST00000380152.8:c.9981A>T MANE Select	ENSP00000369497.3:p.Lys3327Asn
ENST00000544455.6:c.9981A>T	ENSP00000439902.1:p.Lys3327Asn
ENST00000614259.2:c.9989A>T	ENSP00000506251.1:n.9989A>T
ENST00000680887.1:c.9981A>T	ENSP00000505508.1:p.Lys3327Asn
ENST00000380152.7:c.9981A>T	ENSP00000369497.3:p.Lys3327Asn
ENST00000544455.5:c.9981A>T	ENSP00000439902.1:p.Lys3327Asn
NM_000059.3:c.9981A>T , LRG_293t1:c.9981A>T	NP_000050.2:p.Lys3327Asn
XM_011535203.1:c.9981A>T	XP_011533505.1:p.Lys3327Asn
XM_011535204.1:c.9885A>T	XP_011533506.1:p.Lys3295Asn
NM_000059.4:c.9981A>T MANE Select	NP_000050.3:p.Lys3327Asn