Canonical Allele Identifier: CA387758542

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137625656
• MyVariant Identifiers: chr13:g.32954257T>A (hg19) ; chr13:g.32380120T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380120T>A , CM000675.2:g.32380120T>A	GRCh38
NC_000013.10:g.32954257T>A , CM000675.1:g.32954257T>A	GRCh37
NC_000013.9:g.31852257T>A	NCBI36
NG_012772.3:g.69641T>A , LRG_293:g.69641T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9231T>A	ENSP00000434898.2:p.Phe3077Leu
ENST00000528762.2:c.*598T>A	ENSP00000433168.2:n.*598T>A
ENST00000530893.7:c.8862T>A	ENSP00000499438.2:p.Phe2954Leu
ENST00000665585.2:c.*793T>A	ENSP00000499570.2:n.*793T>A
ENST00000666593.2:c.9231T>A	ENSP00000499256.2:p.Phe3077Leu
ENST00000700202.2:c.9180T>A	ENSP00000514856.2:p.Phe3060Leu
ENST00000700202.1:c.1647T>A	ENSP00000514856.1:p.Phe549Leu
ENST00000700203.1:n.1358T>A
ENST00000380152.8:c.9231T>A MANE Select	ENSP00000369497.3:p.Phe3077Leu
ENST00000544455.6:c.9231T>A	ENSP00000439902.1:p.Phe3077Leu
ENST00000614259.2:c.9239T>A	ENSP00000506251.1:n.9239T>A
ENST00000665585.1:c.2109T>A
ENST00000666593.1:c.114T>A	ENSP00000499256.1:p.Phe38Leu
ENST00000680887.1:c.9231T>A	ENSP00000505508.1:p.Phe3077Leu
ENST00000380152.7:c.9231T>A	ENSP00000369497.3:p.Phe3077Leu
ENST00000470094.1:c.188T>A
ENST00000544455.5:c.9231T>A	ENSP00000439902.1:p.Phe3077Leu
NM_000059.3:c.9231T>A , LRG_293t1:c.9231T>A	NP_000050.2:p.Phe3077Leu
XM_011535203.1:c.9231T>A	XP_011533505.1:p.Phe3077Leu
XM_011535204.1:c.9135T>A	XP_011533506.1:p.Phe3045Leu
NM_000059.4:c.9231T>A MANE Select	NP_000050.3:p.Phe3077Leu