Canonical Allele Identifier: CA2519760551
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376190_32376191insC , CM000675.2:g.32376190_32376191insC GRCh38
NC_000013.10:g.32950327_32950328insC , CM000675.1:g.32950327_32950328insC GRCh37
NC_000013.9:g.31848327_31848328insC NCBI36
NG_012772.3:g.65711_65712insC , LRG_293:g.65711_65712insC

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8633-480_8633-479insC ENSP00000434898.2:n.8633-480_8633-479insC
ENST00000528762.2:c.8697-480_8697-479insC ENSP00000433168.2:n.8697-480_8697-479insC
ENST00000530893.7:c.8264-480_8264-479insC ENSP00000499438.2:n.8264-480_8264-479insC
ENST00000665585.2:c.*195-480_*195-479insC ENSP00000499570.2:n.*195-480_*195-479insC
ENST00000666593.2:c.8633-480_8633-479insC ENSP00000499256.2:n.8633-480_8633-479insC
ENST00000700202.2:c.8633-480_8633-479insC ENSP00000514856.2:n.8633-480_8633-479insC
ENST00000700202.1:c.1100-480_1100-479insC ENSP00000514856.1:n.1100-480_1100-479insC
ENST00000700203.1:n.280_281insC
ENST00000380152.8:c.8633-480_8633-479insC MANE Select ENSP00000369497.3:n.8633-480_8633-479insC
ENST00000544455.6:c.8633-480_8633-479insC ENSP00000439902.1:n.8633-480_8633-479insC
ENST00000614259.2:c.8641-480_8641-479insC ENSP00000506251.1:n.8641-480_8641-479insC
ENST00000665585.1:c.1511-480_1511-479insC
ENST00000680887.1:c.8633-480_8633-479insC ENSP00000505508.1:n.8633-480_8633-479insC
ENST00000380152.7:c.8633-480_8633-479insC ENSP00000369497.3:n.8633-480_8633-479insC
ENST00000528762.1:c.195-480_195-479insC ENSP00000433168.1:n.195-480_195-479insC
ENST00000544455.5:c.8633-480_8633-479insC ENSP00000439902.1:n.8633-480_8633-479insC
NM_000059.3:c.8633-480_8633-479insC , LRG_293t1:c.8633-480_8633-479insC NP_000050.2:n.8633-480_8633-479insC
XM_011535203.1:c.8633-480_8633-479insC XP_011533505.1:n.8633-480_8633-479insC
XM_011535204.1:c.8537-480_8537-479insC XP_011533506.1:n.8537-480_8537-479insC
XM_011535205.1:c.8633-480_8633-479insC XP_011533507.1:n.8633-480_8633-479insC
NM_000059.4:c.8633-480_8633-479insC MANE Select NP_000050.3:n.8633-480_8633-479insC