Canonical Allele Identifier: CA387757698

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379898G>C , CM000675.2:g.32379898G>C	GRCh38
NC_000013.10:g.32954035G>C , CM000675.1:g.32954035G>C	GRCh37
NC_000013.9:g.31852035G>C	NCBI36
NG_012772.3:g.69419G>C , LRG_293:g.69419G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.9102G>C MANE Select	NP_000050.3:p.Gln3034His
ENST00000380152.8:c.9102G>C MANE Select	ENSP00000369497.3:p.Gln3034His
NM_000059.3:c.9102G>C , LRG_293t1:c.9102G>C	NP_000050.2:p.Gln3034His
ENST00000380152.7:c.9102G>C	ENSP00000369497.3:p.Gln3034His
ENST00000470094.1:c.59G>C
ENST00000470094.2:c.9102G>C	ENSP00000434898.2:p.Gln3034His
ENST00000528762.2:c.*469G>C	ENSP00000433168.2:n.*469G>C
ENST00000530893.7:c.8733G>C	ENSP00000499438.2:p.Gln2911His
ENST00000544455.5:c.9102G>C	ENSP00000439902.1:p.Gln3034His
ENST00000544455.6:c.9102G>C	ENSP00000439902.1:p.Gln3034His
ENST00000614259.2:c.9110G>C	ENSP00000506251.1:n.9110G>C
ENST00000665585.1:c.1980G>C
ENST00000665585.2:c.*664G>C	ENSP00000499570.2:n.*664G>C
ENST00000666593.2:c.9102G>C	ENSP00000499256.2:p.Gln3034His
ENST00000680887.1:c.9102G>C	ENSP00000505508.1:p.Gln3034His
ENST00000700202.1:c.1518G>C	ENSP00000514856.1:p.Gln506His
ENST00000700202.2:c.9051G>C	ENSP00000514856.2:p.Gln3017His
ENST00000700203.1:n.1229G>C
XM_011535203.1:c.9102G>C	XP_011533505.1:p.Gln3034His
XM_011535204.1:c.9006G>C	XP_011533506.1:p.Gln3002His