Canonical Allele Identifier: CA387760751

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394700T>C , CM000675.2:g.32394700T>C	GRCh38
NC_000013.10:g.32968837T>C , CM000675.1:g.32968837T>C	GRCh37
NC_000013.9:g.31866837T>C	NCBI36
NG_012772.3:g.84221T>C , LRG_293:g.84221T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9268T>C MANE Select	NP_000050.3:p.Phe3090Leu
ENST00000380152.8:c.9268T>C MANE Select	ENSP00000369497.3:p.Phe3090Leu
NM_000059.3:c.9268T>C , LRG_293t1:c.9268T>C	NP_000050.2:p.Phe3090Leu
ENST00000380152.7:c.9268T>C	ENSP00000369497.3:p.Phe3090Leu
ENST00000470094.1:c.225T>C
ENST00000470094.2:c.9268T>C	ENSP00000434898.2:p.Phe3090Leu
ENST00000528762.2:c.*635T>C	ENSP00000433168.2:n.*635T>C
ENST00000530893.7:c.8899T>C	ENSP00000499438.2:p.Phe2967Leu
ENST00000544455.5:c.9268T>C	ENSP00000439902.1:p.Phe3090Leu
ENST00000544455.6:c.9268T>C	ENSP00000439902.1:p.Phe3090Leu
ENST00000614259.2:c.9276T>C	ENSP00000506251.1:n.9276T>C
ENST00000665585.1:c.2146T>C
ENST00000665585.2:c.*830T>C	ENSP00000499570.2:n.*830T>C
ENST00000666593.1:c.290T>C	ENSP00000499256.1:n.290T>C
ENST00000666593.2:c.*113T>C	ENSP00000499256.2:n.*113T>C
ENST00000680887.1:c.9268T>C	ENSP00000505508.1:p.Phe3090Leu
ENST00000700202.1:c.1684T>C	ENSP00000514856.1:p.Phe562Leu
ENST00000700202.2:c.9217T>C	ENSP00000514856.2:p.Phe3073Leu
ENST00000700203.1:n.1395T>C
XM_011535203.1:c.9268T>C	XP_011533505.1:p.Phe3090Leu
XM_011535204.1:c.9172T>C	XP_011533506.1:p.Phe3058Leu