Canonical Allele Identifier: CA697352843
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1223219555

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32380336_32380337dup , CM000675.2:g.32380336_32380337dup GRCh38
NC_000013.10:g.32954473_32954474dup , CM000675.1:g.32954473_32954474dup GRCh37
NC_000013.9:g.31852473_31852474dup NCBI36
NG_012772.3:g.69857_69858dup , LRG_293:g.69857_69858dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.9256+191_9256+192dup ENSP00000434898.2:n.9256+191_9256+192dup
ENST00000528762.2:c.*623+191_*623+192dup ENSP00000433168.2:n.*623+191_*623+192dup
ENST00000530893.7:c.8887+191_8887+192dup ENSP00000499438.2:n.8887+191_8887+192dup
ENST00000665585.2:c.*818+191_*818+192dup ENSP00000499570.2:n.*818+191_*818+192dup
ENST00000666593.2:c.9256+191_9256+192dup ENSP00000499256.2:n.9256+191_9256+192dup
ENST00000700202.2:c.9205+191_9205+192dup ENSP00000514856.2:n.9205+191_9205+192dup
ENST00000700202.1:c.1672+191_1672+192dup ENSP00000514856.1:n.1672+191_1672+192dup
ENST00000700203.1:n.1383+191_1383+192dup
ENST00000380152.8:c.9256+191_9256+192dup MANE Select ENSP00000369497.3:n.9256+191_9256+192dup
ENST00000544455.6:c.9256+191_9256+192dup ENSP00000439902.1:n.9256+191_9256+192dup
ENST00000614259.2:c.9264+191_9264+192dup ENSP00000506251.1:n.9264+191_9264+192dup
ENST00000665585.1:c.2134+191_2134+192dup
ENST00000666593.1:c.139+191_139+192dup ENSP00000499256.1:n.139+191_139+192dup
ENST00000680887.1:c.9256+191_9256+192dup ENSP00000505508.1:n.9256+191_9256+192dup
ENST00000380152.7:c.9256+191_9256+192dup ENSP00000369497.3:n.9256+191_9256+192dup
ENST00000470094.1:c.213+191_213+192dup
ENST00000544455.5:c.9256+191_9256+192dup ENSP00000439902.1:n.9256+191_9256+192dup
NM_000059.3:c.9256+191_9256+192dup , LRG_293t1:c.9256+191_9256+192dup NP_000050.2:n.9256+191_9256+192dup
XM_011535203.1:c.9256+191_9256+192dup XP_011533505.1:n.9256+191_9256+192dup
XM_011535204.1:c.9160+191_9160+192dup XP_011533506.1:n.9160+191_9160+192dup
NM_000059.4:c.9256+191_9256+192dup MANE Select NP_000050.3:n.9256+191_9256+192dup