Canonical Allele Identifier: CA2082749877
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32326112_32326113delinsTA , CM000675.2:g.32326112_32326113delinsTA GRCh38
NC_000013.10:g.32900249_32900250delinsTA , CM000675.1:g.32900249_32900250delinsTA GRCh37
NC_000013.9:g.31798249_31798250delinsTA NCBI36
NG_012772.3:g.15633_15634delinsTA , LRG_293:g.15633_15634delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.437_438delinsTA ENSP00000434898.2:p.Leu146=
ENST00000528762.2:c.437_438delinsTA ENSP00000433168.2:p.Leu146=
ENST00000530893.7:c.68_69delinsTA ENSP00000499438.2:p.Leu23=
ENST00000665585.2:c.437_438delinsTA ENSP00000499570.2:p.Leu146=
ENST00000666593.2:c.437_438delinsTA ENSP00000499256.2:p.Leu146=
ENST00000700202.2:c.437_438delinsTA ENSP00000514856.2:p.Leu146=
ENST00000700200.1:n.308_309delinsTA
ENST00000700201.1:c.*216_*217delinsTA ENSP00000514855.1:n.*216_*217delinsTA
ENST00000380152.8:c.437_438delinsTA MANE Select ENSP00000369497.3:p.Leu146=
ENST00000544455.6:c.437_438delinsTA ENSP00000439902.1:p.Leu146=
ENST00000614259.2:c.437_438delinsTA ENSP00000506251.1:p.Leu146=
ENST00000680887.1:c.437_438delinsTA ENSP00000505508.1:p.Leu146=
ENST00000380152.7:c.437_438delinsTA ENSP00000369497.3:p.Leu146=
ENST00000530893.6:n.635_636delinsTA
ENST00000544455.5:c.437_438delinsTA ENSP00000439902.1:p.Leu146=
ENST00000614259.1:n.437_438delinsTA
NM_000059.3:c.437_438delinsTA , LRG_293t1:c.437_438delinsTA NP_000050.2:p.Leu146=
XM_011535203.1:c.437_438delinsTA XP_011533505.1:p.Leu146=
XM_011535204.1:c.437_438delinsTA XP_011533506.1:p.Leu146=
XM_011535205.1:c.437_438delinsTA XP_011533507.1:p.Leu146=
NM_000059.4:c.437_438delinsTA MANE Select NP_000050.3:p.Leu146=