Canonical Allele Identifier: CA025918

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52724
• ClinVar RCV Id: RCV000114029 ; RCV001852963
• dbSNP Id: rs80359151
• MyVariant Identifiers: chr13:g.32953932T>A (hg19) ; chr13:g.32379795T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379795T>A , CM000675.2:g.32379795T>A	GRCh38
NC_000013.10:g.32953932T>A , CM000675.1:g.32953932T>A	GRCh37
NC_000013.9:g.31851932T>A	NCBI36
NG_012772.3:g.69316T>A , LRG_293:g.69316T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8999T>A	ENSP00000434898.2:p.Leu3000Ter
ENST00000528762.2:c.*366T>A	ENSP00000433168.2:n.*366T>A
ENST00000530893.7:c.8630T>A	ENSP00000499438.2:p.Leu2877Ter
ENST00000665585.2:c.*561T>A	ENSP00000499570.2:n.*561T>A
ENST00000666593.2:c.8999T>A	ENSP00000499256.2:p.Leu3000Ter
ENST00000700202.2:c.8954-6T>A	ENSP00000514856.2:n.8954-6T>A
ENST00000700202.1:c.1421-6T>A	ENSP00000514856.1:n.1421-6T>A
ENST00000700203.1:n.1126T>A
ENST00000380152.8:c.8999T>A MANE Select	ENSP00000369497.3:p.Leu3000Ter
ENST00000544455.6:c.8999T>A	ENSP00000439902.1:p.Leu3000Ter
ENST00000614259.2:c.9007T>A	ENSP00000506251.1:n.9007T>A
ENST00000665585.1:c.1877T>A
ENST00000680887.1:c.8999T>A	ENSP00000505508.1:p.Leu3000Ter
ENST00000380152.7:c.8999T>A	ENSP00000369497.3:p.Leu3000Ter
ENST00000544455.5:c.8999T>A	ENSP00000439902.1:p.Leu3000Ter
NM_000059.3:c.8999T>A , LRG_293t1:c.8999T>A	NP_000050.2:p.Leu3000Ter
XM_011535203.1:c.8999T>A	XP_011533505.1:p.Leu3000Ter
XM_011535204.1:c.8903T>A	XP_011533506.1:p.Leu2968Ter
XM_011535205.1:c.*37T>A	XP_011533507.1:n.*37T>A
NM_000059.4:c.8999T>A MANE Select	NP_000050.3:p.Leu3000Ter