Canonical Allele Identifier: CA387758586

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137625724
• MyVariant Identifiers: chr13:g.32954262T>A (hg19) ; chr13:g.32380125T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380125T>A , CM000675.2:g.32380125T>A	GRCh38
NC_000013.10:g.32954262T>A , CM000675.1:g.32954262T>A	GRCh37
NC_000013.9:g.31852262T>A	NCBI36
NG_012772.3:g.69646T>A , LRG_293:g.69646T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9236T>A	ENSP00000434898.2:p.Val3079Asp
ENST00000528762.2:c.*603T>A	ENSP00000433168.2:n.*603T>A
ENST00000530893.7:c.8867T>A	ENSP00000499438.2:p.Val2956Asp
ENST00000665585.2:c.*798T>A	ENSP00000499570.2:n.*798T>A
ENST00000666593.2:c.9236T>A	ENSP00000499256.2:p.Val3079Asp
ENST00000700202.2:c.9185T>A	ENSP00000514856.2:p.Val3062Asp
ENST00000700202.1:c.1652T>A	ENSP00000514856.1:p.Val551Asp
ENST00000700203.1:n.1363T>A
ENST00000380152.8:c.9236T>A MANE Select	ENSP00000369497.3:p.Val3079Asp
ENST00000544455.6:c.9236T>A	ENSP00000439902.1:p.Val3079Asp
ENST00000614259.2:c.9244T>A	ENSP00000506251.1:n.9244T>A
ENST00000665585.1:c.2114T>A
ENST00000666593.1:c.119T>A	ENSP00000499256.1:p.Val40Asp
ENST00000680887.1:c.9236T>A	ENSP00000505508.1:p.Val3079Asp
ENST00000380152.7:c.9236T>A	ENSP00000369497.3:p.Val3079Asp
ENST00000470094.1:c.193T>A
ENST00000544455.5:c.9236T>A	ENSP00000439902.1:p.Val3079Asp
NM_000059.3:c.9236T>A , LRG_293t1:c.9236T>A	NP_000050.2:p.Val3079Asp
XM_011535203.1:c.9236T>A	XP_011533505.1:p.Val3079Asp
XM_011535204.1:c.9140T>A	XP_011533506.1:p.Val3047Asp
NM_000059.4:c.9236T>A MANE Select	NP_000050.3:p.Val3079Asp