Canonical Allele Identifier: CA2082829531
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs2072742398

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32362274_32362276del , CM000675.2:g.32362274_32362276del GRCh38
NC_000013.10:g.32936411_32936413del , CM000675.1:g.32936411_32936413del GRCh37
NC_000013.9:g.31834411_31834413del NCBI36
NG_012772.3:g.51795_51797del , LRG_293:g.51795_51797del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7806-249_7806-247del ENSP00000434898.2:n.7806-249_7806-247del
ENST00000528762.2:c.7806-249_7806-247del ENSP00000433168.2:n.7806-249_7806-247del
ENST00000530893.7:c.7437-249_7437-247del ENSP00000499438.2:n.7437-249_7437-247del
ENST00000665585.2:c.7806-249_7806-247del ENSP00000499570.2:n.7806-249_7806-247del
ENST00000666593.2:c.7806-249_7806-247del ENSP00000499256.2:n.7806-249_7806-247del
ENST00000700202.2:c.7806-249_7806-247del ENSP00000514856.2:n.7806-249_7806-247del
ENST00000700202.1:c.273-249_273-247del ENSP00000514856.1:n.273-249_273-247del
ENST00000380152.8:c.7806-249_7806-247del MANE Select ENSP00000369497.3:n.7806-249_7806-247del
ENST00000544455.6:c.7806-249_7806-247del ENSP00000439902.1:n.7806-249_7806-247del
ENST00000614259.2:c.7806-241_7806-239del ENSP00000506251.1:n.7806-241_7806-239del
ENST00000665585.1:c.371-249_371-247del
ENST00000680887.1:c.7806-249_7806-247del ENSP00000505508.1:n.7806-249_7806-247del
ENST00000380152.7:c.7806-249_7806-247del ENSP00000369497.3:n.7806-249_7806-247del
ENST00000544455.5:c.7806-249_7806-247del ENSP00000439902.1:n.7806-249_7806-247del
ENST00000614259.1:n.7806-241_7806-239del
NM_000059.3:c.7806-249_7806-247del , LRG_293t1:c.7806-249_7806-247del NP_000050.2:n.7806-249_7806-247del
XM_011535203.1:c.7806-249_7806-247del XP_011533505.1:n.7806-249_7806-247del
XM_011535204.1:c.7710-249_7710-247del XP_011533506.1:n.7710-249_7710-247del
XM_011535205.1:c.7806-249_7806-247del XP_011533507.1:n.7806-249_7806-247del
NM_000059.4:c.7806-249_7806-247del MANE Select NP_000050.3:n.7806-249_7806-247del