Canonical Allele Identifier: CA387761221

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394805C>T , CM000675.2:g.32394805C>T	GRCh38
NC_000013.10:g.32968942C>T , CM000675.1:g.32968942C>T	GRCh37
NC_000013.9:g.31866942C>T	NCBI36
NG_012772.3:g.84326C>T , LRG_293:g.84326C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9373C>T MANE Select	NP_000050.3:p.Leu3125Phe
ENST00000380152.8:c.9373C>T MANE Select	ENSP00000369497.3:p.Leu3125Phe
NM_000059.3:c.9373C>T , LRG_293t1:c.9373C>T	NP_000050.2:p.Leu3125Phe
ENST00000380152.7:c.9373C>T	ENSP00000369497.3:p.Leu3125Phe
ENST00000470094.1:c.330C>T
ENST00000470094.2:c.9373C>T	ENSP00000434898.2:p.Leu3125Phe
ENST00000528762.2:c.*740C>T	ENSP00000433168.2:n.*740C>T
ENST00000530893.7:c.9004C>T	ENSP00000499438.2:p.Leu3002Phe
ENST00000544455.5:c.9373C>T	ENSP00000439902.1:p.Leu3125Phe
ENST00000544455.6:c.9373C>T	ENSP00000439902.1:p.Leu3125Phe
ENST00000614259.2:c.9381C>T	ENSP00000506251.1:n.9381C>T
ENST00000665585.1:c.2251C>T
ENST00000665585.2:c.*935C>T	ENSP00000499570.2:n.*935C>T
ENST00000666593.1:c.395C>T	ENSP00000499256.1:n.395C>T
ENST00000666593.2:c.*218C>T	ENSP00000499256.2:n.*218C>T
ENST00000680887.1:c.9373C>T	ENSP00000505508.1:p.Leu3125Phe
ENST00000700202.1:c.1789C>T	ENSP00000514856.1:p.Leu597Phe
ENST00000700202.2:c.9322C>T	ENSP00000514856.2:p.Leu3108Phe
ENST00000700203.1:n.1500C>T
XM_011535203.1:c.9373C>T	XP_011533505.1:p.Leu3125Phe
XM_011535204.1:c.9277C>T	XP_011533506.1:p.Leu3093Phe