Canonical Allele Identifier: CA2082836667
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379502_32379503delinsAG , CM000675.2:g.32379502_32379503delinsAG GRCh38
NC_000013.10:g.32953639_32953640delinsAG , CM000675.1:g.32953639_32953640delinsAG GRCh37
NC_000013.9:g.31851639_31851640delinsAG NCBI36
NG_012772.3:g.69023_69024delinsAG , LRG_293:g.69023_69024delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8940_8941delinsAG ENSP00000434898.2:p.Lys2980=
ENST00000528762.2:c.*307_*308delinsAG ENSP00000433168.2:n.*307_*308delinsAG
ENST00000530893.7:c.8571_8572delinsAG ENSP00000499438.2:p.Lys2857=
ENST00000665585.2:c.*502_*503delinsAG ENSP00000499570.2:n.*502_*503delinsAG
ENST00000666593.2:c.8940_8941delinsAG ENSP00000499256.2:p.Lys2980=
ENST00000700202.2:c.8940_8941delinsAG ENSP00000514856.2:p.Lys2980=
ENST00000700202.1:c.1407_1408delinsAG ENSP00000514856.1:p.Lys469=
ENST00000700203.1:n.1067_1068delinsAG
ENST00000380152.8:c.8940_8941delinsAG MANE Select ENSP00000369497.3:p.Lys2980=
ENST00000544455.6:c.8940_8941delinsAG ENSP00000439902.1:p.Lys2980=
ENST00000614259.2:c.8948_8949delinsAG ENSP00000506251.1:n.8948_8949delinsAG
ENST00000665585.1:c.1818_1819delinsAG
ENST00000680887.1:c.8940_8941delinsAG ENSP00000505508.1:p.Lys2980=
ENST00000380152.7:c.8940_8941delinsAG ENSP00000369497.3:p.Lys2980=
ENST00000544455.5:c.8940_8941delinsAG ENSP00000439902.1:p.Lys2980=
NM_000059.3:c.8940_8941delinsAG , LRG_293t1:c.8940_8941delinsAG NP_000050.2:p.Lys2980=
XM_011535203.1:c.8940_8941delinsAG XP_011533505.1:p.Lys2980=
XM_011535204.1:c.8844_8845delinsAG XP_011533506.1:p.Lys2948=
XM_011535205.1:c.8755-248_8755-247delinsAG XP_011533507.1:n.8755-248_8755-247delinsAG
NM_000059.4:c.8940_8941delinsAG MANE Select NP_000050.3:p.Lys2980=