Canonical Allele Identifier: CA2499222337
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32371019_32371038dup , CM000675.2:g.32371019_32371038dup GRCh38
NC_000013.10:g.32945156_32945175dup , CM000675.1:g.32945156_32945175dup GRCh37
NC_000013.9:g.31843156_31843175dup NCBI36
NG_012772.3:g.60540_60559dup , LRG_293:g.60540_60559dup

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.8551_8570dup ENSP00000434898.2:p.Lys2860AsnfsTer10
ENST00000528762.2:c.8551_8570dup ENSP00000433168.2:p.Lys2860AsnfsTer10
ENST00000530893.7:c.8182_8201dup ENSP00000499438.2:p.Lys2737AsnfsTer10
ENST00000665585.2:c.8551_8570dup ENSP00000499570.2:p.Lys2860AsnfsTer10
ENST00000666593.2:c.8551_8570dup ENSP00000499256.2:p.Lys2860AsnfsTer10
ENST00000700202.2:c.8551_8570dup ENSP00000514856.2:p.Lys2860AsnfsTer10
ENST00000700202.1:c.1018_1037dup ENSP00000514856.1:p.Lys349AsnfsTer10
ENST00000380152.8:c.8551_8570dup MANE Select ENSP00000369497.3:p.Lys2860AsnfsTer10
ENST00000544455.6:c.8551_8570dup ENSP00000439902.1:p.Lys2860AsnfsTer10
ENST00000614259.2:c.8559_8578dup ENSP00000506251.1:n.8559_8578dup
ENST00000665585.1:c.1116_1135dup
ENST00000680887.1:c.8551_8570dup ENSP00000505508.1:p.Lys2860AsnfsTer10
ENST00000380152.7:c.8551_8570dup ENSP00000369497.3:p.Lys2860AsnfsTer10
ENST00000528762.1:c.49_68dup ENSP00000433168.1:p.Lys26AsnfsTer10
ENST00000544455.5:c.8551_8570dup ENSP00000439902.1:p.Lys2860AsnfsTer10
NM_000059.3:c.8551_8570dup , LRG_293t1:c.8551_8570dup NP_000050.2:p.Lys2860AsnfsTer10
XM_011535203.1:c.8551_8570dup XP_011533505.1:p.Lys2860AsnfsTer10
XM_011535204.1:c.8455_8474dup XP_011533506.1:p.Lys2828AsnfsTer10
XM_011535205.1:c.8551_8570dup XP_011533507.1:p.Lys2860AsnfsTer10
NM_000059.4:c.8551_8570dup MANE Select NP_000050.3:p.Lys2860AsnfsTer10