Canonical Allele Identifier: CA387758066

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32380069T>G , CM000675.2:g.32380069T>G	GRCh38
NC_000013.10:g.32954206T>G , CM000675.1:g.32954206T>G	GRCh37
NC_000013.9:g.31852206T>G	NCBI36
NG_012772.3:g.69590T>G , LRG_293:g.69590T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9180T>G MANE Select	NP_000050.3:p.Phe3060Leu
ENST00000380152.8:c.9180T>G MANE Select	ENSP00000369497.3:p.Phe3060Leu
NM_000059.3:c.9180T>G , LRG_293t1:c.9180T>G	NP_000050.2:p.Phe3060Leu
ENST00000380152.7:c.9180T>G	ENSP00000369497.3:p.Phe3060Leu
ENST00000470094.1:c.137T>G
ENST00000470094.2:c.9180T>G	ENSP00000434898.2:p.Phe3060Leu
ENST00000528762.2:c.*547T>G	ENSP00000433168.2:n.*547T>G
ENST00000530893.7:c.8811T>G	ENSP00000499438.2:p.Phe2937Leu
ENST00000544455.5:c.9180T>G	ENSP00000439902.1:p.Phe3060Leu
ENST00000544455.6:c.9180T>G	ENSP00000439902.1:p.Phe3060Leu
ENST00000614259.2:c.9188T>G	ENSP00000506251.1:n.9188T>G
ENST00000665585.1:c.2058T>G
ENST00000665585.2:c.*742T>G	ENSP00000499570.2:n.*742T>G
ENST00000666593.1:c.63T>G	ENSP00000499256.1:p.Phe21Leu
ENST00000666593.2:c.9180T>G	ENSP00000499256.2:p.Phe3060Leu
ENST00000680887.1:c.9180T>G	ENSP00000505508.1:p.Phe3060Leu
ENST00000700202.1:c.1596T>G	ENSP00000514856.1:p.Phe532Leu
ENST00000700202.2:c.9129T>G	ENSP00000514856.2:p.Phe3043Leu
ENST00000700203.1:n.1307T>G
XM_011535203.1:c.9180T>G	XP_011533505.1:p.Phe3060Leu
XM_011535204.1:c.9084T>G	XP_011533506.1:p.Phe3028Leu