Canonical Allele Identifier: CA387761554

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394866T>C , CM000675.2:g.32394866T>C	GRCh38
NC_000013.10:g.32969003T>C , CM000675.1:g.32969003T>C	GRCh37
NC_000013.9:g.31867003T>C	NCBI36
NG_012772.3:g.84387T>C , LRG_293:g.84387T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9434T>C MANE Select	NP_000050.3:p.Val3145Ala
ENST00000380152.8:c.9434T>C MANE Select	ENSP00000369497.3:p.Val3145Ala
NM_000059.3:c.9434T>C , LRG_293t1:c.9434T>C	NP_000050.2:p.Val3145Ala
ENST00000380152.7:c.9434T>C	ENSP00000369497.3:p.Val3145Ala
ENST00000470094.1:c.391T>C
ENST00000470094.2:c.9434T>C	ENSP00000434898.2:p.Val3145Ala
ENST00000528762.2:c.*801T>C	ENSP00000433168.2:n.*801T>C
ENST00000530893.7:c.9065T>C	ENSP00000499438.2:p.Val3022Ala
ENST00000544455.5:c.9434T>C	ENSP00000439902.1:p.Val3145Ala
ENST00000544455.6:c.9434T>C	ENSP00000439902.1:p.Val3145Ala
ENST00000614259.2:c.9442T>C	ENSP00000506251.1:n.9442T>C
ENST00000665585.1:c.2312T>C
ENST00000665585.2:c.*996T>C	ENSP00000499570.2:n.*996T>C
ENST00000666593.1:c.456T>C	ENSP00000499256.1:n.456T>C
ENST00000666593.2:c.*279T>C	ENSP00000499256.2:n.*279T>C
ENST00000680887.1:c.9434T>C	ENSP00000505508.1:p.Val3145Ala
ENST00000700202.1:c.1850T>C	ENSP00000514856.1:p.Val617Ala
ENST00000700202.2:c.9383T>C	ENSP00000514856.2:p.Val3128Ala
ENST00000700203.1:n.1561T>C
XM_011535203.1:c.9434T>C	XP_011533505.1:p.Val3145Ala
XM_011535204.1:c.9338T>C	XP_011533506.1:p.Val3113Ala