Canonical Allele Identifier: CA2082820612
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339575_32339578delinsAAGT , CM000675.2:g.32339575_32339578delinsAAGT GRCh38
NC_000013.10:g.32913712_32913715delinsAAGT , CM000675.1:g.32913712_32913715delinsAAGT GRCh37
NC_000013.9:g.31811712_31811715delinsAAGT NCBI36
NG_012772.3:g.29096_29099delinsAAGT , LRG_293:g.29096_29099delinsAAGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.5220_5223delinsAAGT ENSP00000434898.2:p.Leu1740=
ENST00000528762.2:c.5220_5223delinsAAGT ENSP00000433168.2:p.Leu1740=
ENST00000530893.7:c.4851_4854delinsAAGT ENSP00000499438.2:p.Leu1617=
ENST00000665585.2:c.5220_5223delinsAAGT ENSP00000499570.2:p.Leu1740=
ENST00000666593.2:c.5220_5223delinsAAGT ENSP00000499256.2:p.Leu1740=
ENST00000700202.2:c.5220_5223delinsAAGT ENSP00000514856.2:p.Leu1740=
ENST00000380152.8:c.5220_5223delinsAAGT MANE Select ENSP00000369497.3:p.Leu1740=
ENST00000544455.6:c.5220_5223delinsAAGT ENSP00000439902.1:p.Leu1740=
ENST00000614259.2:c.5220_5223delinsAAGT ENSP00000506251.1:p.Leu1740=
ENST00000680887.1:c.5220_5223delinsAAGT ENSP00000505508.1:p.Leu1740=
ENST00000380152.7:c.5220_5223delinsAAGT ENSP00000369497.3:p.Leu1740=
ENST00000544455.5:c.5220_5223delinsAAGT ENSP00000439902.1:p.Leu1740=
ENST00000614259.1:n.5220_5223delinsAAGT
NM_000059.3:c.5220_5223delinsAAGT , LRG_293t1:c.5220_5223delinsAAGT NP_000050.2:p.Leu1740=
XM_011535203.1:c.5220_5223delinsAAGT XP_011533505.1:p.Leu1740=
XM_011535204.1:c.5220_5223delinsAAGT XP_011533506.1:p.Leu1740=
XM_011535205.1:c.5220_5223delinsAAGT XP_011533507.1:p.Leu1740=
NM_000059.4:c.5220_5223delinsAAGT MANE Select NP_000050.3:p.Leu1740=