Canonical Allele Identifier: CA2840299322
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32339607_32339608insAAGG , CM000675.2:g.32339607_32339608insAAGG GRCh38
NC_000013.10:g.32913744_32913745insAAGG , CM000675.1:g.32913744_32913745insAAGG GRCh37
NC_000013.9:g.31811744_31811745insAAGG NCBI36
NG_012772.3:g.29128_29129insAAGG , LRG_293:g.29128_29129insAAGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.5252_5253insAAGG ENSP00000434898.2:p.Tyr1751Ter
ENST00000528762.2:c.5252_5253insAAGG ENSP00000433168.2:p.Tyr1751Ter
ENST00000530893.7:c.4883_4884insAAGG ENSP00000499438.2:p.Tyr1628Ter
ENST00000665585.2:c.5252_5253insAAGG ENSP00000499570.2:p.Tyr1751Ter
ENST00000666593.2:c.5252_5253insAAGG ENSP00000499256.2:p.Tyr1751Ter
ENST00000700202.2:c.5252_5253insAAGG ENSP00000514856.2:p.Tyr1751Ter
ENST00000380152.8:c.5252_5253insAAGG MANE Select ENSP00000369497.3:p.Tyr1751Ter
ENST00000544455.6:c.5252_5253insAAGG ENSP00000439902.1:p.Tyr1751Ter
ENST00000614259.2:c.5252_5253insAAGG ENSP00000506251.1:p.Tyr1751Ter
ENST00000680887.1:c.5252_5253insAAGG ENSP00000505508.1:p.Tyr1751Ter
ENST00000380152.7:c.5252_5253insAAGG ENSP00000369497.3:p.Tyr1751Ter
ENST00000544455.5:c.5252_5253insAAGG ENSP00000439902.1:p.Tyr1751Ter
ENST00000614259.1:n.5252_5253insAAGG
NM_000059.3:c.5252_5253insAAGG , LRG_293t1:c.5252_5253insAAGG NP_000050.2:p.Tyr1751Ter
XM_011535203.1:c.5252_5253insAAGG XP_011533505.1:p.Tyr1751Ter
XM_011535204.1:c.5252_5253insAAGG XP_011533506.1:p.Tyr1751Ter
XM_011535205.1:c.5252_5253insAAGG XP_011533507.1:p.Tyr1751Ter
NM_000059.4:c.5252_5253insAAGG MANE Select NP_000050.3:p.Tyr1751Ter