Canonical Allele Identifier: CA387768049

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398628C>T , CM000675.2:g.32398628C>T	GRCh38
NC_000013.10:g.32972765C>T , CM000675.1:g.32972765C>T	GRCh37
NC_000013.9:g.31870765C>T	NCBI36
NG_012772.3:g.88149C>T , LRG_293:g.88149C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.10115C>T MANE Select	NP_000050.3:p.Ala3372Val
ENST00000380152.8:c.10115C>T MANE Select	ENSP00000369497.3:p.Ala3372Val
NM_000059.3:c.10115C>T , LRG_293t1:c.10115C>T	NP_000050.2:p.Ala3372Val
ENST00000380152.7:c.10115C>T	ENSP00000369497.3:p.Ala3372Val
ENST00000470094.2:c.*638C>T	ENSP00000434898.2:n.*638C>T
ENST00000528762.2:c.*1482C>T	ENSP00000433168.2:n.*1482C>T
ENST00000530893.7:c.9746C>T	ENSP00000499438.2:p.Ala3249Val
ENST00000544455.5:c.10115C>T	ENSP00000439902.1:p.Ala3372Val
ENST00000544455.6:c.10115C>T	ENSP00000439902.1:p.Ala3372Val
ENST00000614259.2:c.10123C>T	ENSP00000506251.1:n.10123C>T
ENST00000665585.2:c.*1677C>T	ENSP00000499570.2:n.*1677C>T
ENST00000680887.1:c.10115C>T	ENSP00000505508.1:p.Ala3372Val
ENST00000700202.1:c.2531C>T	ENSP00000514856.1:p.Ala844Val
ENST00000700202.2:c.10064C>T	ENSP00000514856.2:p.Ala3355Val
ENST00000700203.1:n.2242C>T
XM_011535203.1:c.10115C>T	XP_011533505.1:p.Ala3372Val
XM_011535204.1:c.10019C>T	XP_011533506.1:p.Ala3340Val