Canonical Allele Identifier: CA387744851
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072708128

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32357764A>G , CM000675.2:g.32357764A>G GRCh38
NC_000013.10:g.32931901A>G , CM000675.1:g.32931901A>G GRCh37
NC_000013.9:g.31829901A>G NCBI36
NG_012772.3:g.47285A>G , LRG_293:g.47285A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7640A>G ENSP00000434898.2:p.Lys2547Arg
ENST00000528762.2:c.7640A>G ENSP00000433168.2:p.Lys2547Arg
ENST00000530893.7:c.7271A>G ENSP00000499438.2:p.Lys2424Arg
ENST00000665585.2:c.7640A>G ENSP00000499570.2:p.Lys2547Arg
ENST00000666593.2:c.7640A>G ENSP00000499256.2:p.Lys2547Arg
ENST00000700202.2:c.7640A>G ENSP00000514856.2:p.Lys2547Arg
ENST00000700202.1:c.107A>G ENSP00000514856.1:p.Lys36Arg
ENST00000380152.8:c.7640A>G MANE Select ENSP00000369497.3:p.Lys2547Arg
ENST00000544455.6:c.7640A>G ENSP00000439902.1:p.Lys2547Arg
ENST00000614259.2:c.7640A>G ENSP00000506251.1:p.Lys2547Arg
ENST00000665585.1:c.205A>G
ENST00000680887.1:c.7640A>G ENSP00000505508.1:p.Lys2547Arg
ENST00000380152.7:c.7640A>G ENSP00000369497.3:p.Lys2547Arg
ENST00000544455.5:c.7640A>G ENSP00000439902.1:p.Lys2547Arg
ENST00000614259.1:n.7640A>G
NM_000059.3:c.7640A>G , LRG_293t1:c.7640A>G NP_000050.2:p.Lys2547Arg
XM_011535203.1:c.7640A>G XP_011533505.1:p.Lys2547Arg
XM_011535204.1:c.7544A>G XP_011533506.1:p.Lys2515Arg
XM_011535205.1:c.7640A>G XP_011533507.1:p.Lys2547Arg
NM_000059.4:c.7640A>G MANE Select NP_000050.3:p.Lys2547Arg