Canonical Allele Identifier: CA2082836155
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379448_32379449delinsAT , CM000675.2:g.32379448_32379449delinsAT GRCh38
NC_000013.10:g.32953585_32953586delinsAT , CM000675.1:g.32953585_32953586delinsAT GRCh37
NC_000013.9:g.31851585_31851586delinsAT NCBI36
NG_012772.3:g.68969_68970delinsAT , LRG_293:g.68969_68970delinsAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8886_8887delinsAT ENSP00000434898.2:p.Leu2962=
ENST00000528762.2:c.*253_*254delinsAT ENSP00000433168.2:n.*253_*254delinsAT
ENST00000530893.7:c.8517_8518delinsAT ENSP00000499438.2:p.Leu2839=
ENST00000665585.2:c.*448_*449delinsAT ENSP00000499570.2:n.*448_*449delinsAT
ENST00000666593.2:c.8886_8887delinsAT ENSP00000499256.2:p.Leu2962=
ENST00000700202.2:c.8886_8887delinsAT ENSP00000514856.2:p.Leu2962=
ENST00000700202.1:c.1353_1354delinsAT ENSP00000514856.1:p.Leu451=
ENST00000700203.1:n.1013_1014delinsAT
ENST00000380152.8:c.8886_8887delinsAT MANE Select ENSP00000369497.3:p.Leu2962=
ENST00000544455.6:c.8886_8887delinsAT ENSP00000439902.1:p.Leu2962=
ENST00000614259.2:c.8894_8895delinsAT ENSP00000506251.1:n.8894_8895delinsAT
ENST00000665585.1:c.1764_1765delinsAT
ENST00000680887.1:c.8886_8887delinsAT ENSP00000505508.1:p.Leu2962=
ENST00000380152.7:c.8886_8887delinsAT ENSP00000369497.3:p.Leu2962=
ENST00000528762.1:c.448_449delinsAT ENSP00000433168.1:n.448_449delinsAT
ENST00000544455.5:c.8886_8887delinsAT ENSP00000439902.1:p.Leu2962=
NM_000059.3:c.8886_8887delinsAT , LRG_293t1:c.8886_8887delinsAT NP_000050.2:p.Leu2962=
XM_011535203.1:c.8886_8887delinsAT XP_011533505.1:p.Leu2962=
XM_011535204.1:c.8790_8791delinsAT XP_011533506.1:p.Leu2930=
XM_011535205.1:c.8755-302_8755-301delinsAT XP_011533507.1:n.8755-302_8755-301delinsAT
NM_000059.4:c.8886_8887delinsAT MANE Select NP_000050.3:p.Leu2962=