Canonical Allele Identifier: CA025447

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52501
• ClinVar RCV Id: RCV000113870 ; RCV000585696 ; RCV002274907 ; RCV002514211 ; RCV003343621
• dbSNP Id: rs80359050
• MyVariant Identifiers: chr13:g.32937426T>A (hg19) ; chr13:g.32363289T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32363289T>A , CM000675.2:g.32363289T>A	GRCh38
NC_000013.10:g.32937426T>A , CM000675.1:g.32937426T>A	GRCh37
NC_000013.9:g.31835426T>A	NCBI36
NG_012772.3:g.52810T>A , LRG_293:g.52810T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8087T>A	ENSP00000434898.2:p.Leu2696Ter
ENST00000528762.2:c.8087T>A	ENSP00000433168.2:p.Leu2696Ter
ENST00000530893.7:c.7718T>A	ENSP00000499438.2:p.Leu2573Ter
ENST00000665585.2:c.8087T>A	ENSP00000499570.2:p.Leu2696Ter
ENST00000666593.2:c.8087T>A	ENSP00000499256.2:p.Leu2696Ter
ENST00000700202.2:c.8087T>A	ENSP00000514856.2:p.Leu2696Ter
ENST00000700202.1:c.554T>A	ENSP00000514856.1:p.Leu185Ter
ENST00000380152.8:c.8087T>A MANE Select	ENSP00000369497.3:p.Leu2696Ter
ENST00000544455.6:c.8087T>A	ENSP00000439902.1:p.Leu2696Ter
ENST00000614259.2:c.8095T>A	ENSP00000506251.1:n.8095T>A
ENST00000665585.1:c.652T>A
ENST00000680887.1:c.8087T>A	ENSP00000505508.1:p.Leu2696Ter
ENST00000380152.7:c.8087T>A	ENSP00000369497.3:p.Leu2696Ter
ENST00000544455.5:c.8087T>A	ENSP00000439902.1:p.Leu2696Ter
NM_000059.3:c.8087T>A , LRG_293t1:c.8087T>A	NP_000050.2:p.Leu2696Ter
XM_011535203.1:c.8087T>A	XP_011533505.1:p.Leu2696Ter
XM_011535204.1:c.7991T>A	XP_011533506.1:p.Leu2664Ter
XM_011535205.1:c.8087T>A	XP_011533507.1:p.Leu2696Ter
NM_000059.4:c.8087T>A MANE Select	NP_000050.3:p.Leu2696Ter