Canonical Allele Identifier: CA10589575

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 267174
• ClinVar RCV Id: RCV000257096 ; RCV001310191 ; RCV001859526
• dbSNP Id: rs886040852
• MyVariant Identifiers: chr13:g.32972486T>A (hg19) ; chr13:g.32398349T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398349T>A , CM000675.2:g.32398349T>A	GRCh38
NC_000013.10:g.32972486T>A , CM000675.1:g.32972486T>A	GRCh37
NC_000013.9:g.31870486T>A	NCBI36
NG_012772.3:g.87870T>A , LRG_293:g.87870T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*359T>A	ENSP00000434898.2:n.*359T>A
ENST00000528762.2:c.*1203T>A	ENSP00000433168.2:n.*1203T>A
ENST00000530893.7:c.9467T>A	ENSP00000499438.2:p.Leu3156Ter
ENST00000665585.2:c.*1398T>A	ENSP00000499570.2:n.*1398T>A
ENST00000700202.2:c.9785T>A	ENSP00000514856.2:p.Leu3262Ter
ENST00000700202.1:c.2252T>A	ENSP00000514856.1:p.Leu751Ter
ENST00000700203.1:n.1963T>A
ENST00000380152.8:c.9836T>A MANE Select	ENSP00000369497.3:p.Leu3279Ter
ENST00000544455.6:c.9836T>A	ENSP00000439902.1:p.Leu3279Ter
ENST00000614259.2:c.9844T>A	ENSP00000506251.1:n.9844T>A
ENST00000680887.1:c.9836T>A	ENSP00000505508.1:p.Leu3279Ter
ENST00000380152.7:c.9836T>A	ENSP00000369497.3:p.Leu3279Ter
ENST00000533776.1:n.424T>A
ENST00000544455.5:c.9836T>A	ENSP00000439902.1:p.Leu3279Ter
NM_000059.3:c.9836T>A , LRG_293t1:c.9836T>A	NP_000050.2:p.Leu3279Ter
XM_011535203.1:c.9836T>A	XP_011533505.1:p.Leu3279Ter
XM_011535204.1:c.9740T>A	XP_011533506.1:p.Leu3247Ter
NM_000059.4:c.9836T>A MANE Select	NP_000050.3:p.Leu3279Ter