Canonical Allele Identifier: CA6941474

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398626T>C , CM000675.2:g.32398626T>C	GRCh38
NC_000013.10:g.32972763T>C , CM000675.1:g.32972763T>C	GRCh37
NC_000013.9:g.31870763T>C	NCBI36
NG_012772.3:g.88147T>C , LRG_293:g.88147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*636T>C	ENSP00000434898.2:n.*636T>C
ENST00000528762.2:c.*1480T>C	ENSP00000433168.2:n.*1480T>C
ENST00000530893.7:c.9744T>C	ENSP00000499438.2:p.Thr3248=
ENST00000665585.2:c.*1675T>C	ENSP00000499570.2:n.*1675T>C
ENST00000700202.2:c.10062T>C	ENSP00000514856.2:p.Thr3354=
ENST00000700202.1:c.2529T>C	ENSP00000514856.1:p.Thr843=
ENST00000700203.1:n.2240T>C
ENST00000380152.8:c.10113T>C MANE Select	ENSP00000369497.3:p.Thr3371=
ENST00000544455.6:c.10113T>C	ENSP00000439902.1:p.Thr3371=
ENST00000614259.2:c.10121T>C	ENSP00000506251.1:n.10121T>C
ENST00000680887.1:c.10113T>C	ENSP00000505508.1:p.Thr3371=
ENST00000380152.7:c.10113T>C	ENSP00000369497.3:p.Thr3371=
ENST00000544455.5:c.10113T>C	ENSP00000439902.1:p.Thr3371=
NM_000059.3:c.10113T>C , LRG_293t1:c.10113T>C	NP_000050.2:p.Thr3371=
XM_011535203.1:c.10113T>C	XP_011533505.1:p.Thr3371=
XM_011535204.1:c.10017T>C	XP_011533506.1:p.Thr3339=
NM_000059.4:c.10113T>C MANE Select	NP_000050.3:p.Thr3371=