Canonical Allele Identifier: CA2622601820
Gene: BRCA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32379606_32379607del , CM000675.2:g.32379606_32379607del GRCh38
NC_000013.10:g.32953743_32953744del , CM000675.1:g.32953743_32953744del GRCh37
NC_000013.9:g.31851743_31851744del NCBI36
NG_012772.3:g.69127_69128del , LRG_293:g.69127_69128del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.8953+91_8953+92del ENSP00000434898.2:n.8953+91_8953+92del
ENST00000528762.2:c.*320+91_*320+92del ENSP00000433168.2:n.*320+91_*320+92del
ENST00000530893.7:c.8584+91_8584+92del ENSP00000499438.2:n.8584+91_8584+92del
ENST00000665585.2:c.*515+91_*515+92del ENSP00000499570.2:n.*515+91_*515+92del
ENST00000666593.2:c.8953+91_8953+92del ENSP00000499256.2:n.8953+91_8953+92del
ENST00000700202.2:c.8953+91_8953+92del ENSP00000514856.2:n.8953+91_8953+92del
ENST00000700202.1:c.1420+91_1420+92del ENSP00000514856.1:n.1420+91_1420+92del
ENST00000700203.1:n.1080+91_1080+92del
ENST00000380152.8:c.8953+91_8953+92del MANE Select ENSP00000369497.3:n.8953+91_8953+92del
ENST00000544455.6:c.8953+91_8953+92del ENSP00000439902.1:n.8953+91_8953+92del
ENST00000614259.2:c.8961+91_8961+92del ENSP00000506251.1:n.8961+91_8961+92del
ENST00000665585.1:c.1831+91_1831+92del
ENST00000680887.1:c.8953+91_8953+92del ENSP00000505508.1:n.8953+91_8953+92del
ENST00000380152.7:c.8953+91_8953+92del ENSP00000369497.3:n.8953+91_8953+92del
ENST00000544455.5:c.8953+91_8953+92del ENSP00000439902.1:n.8953+91_8953+92del
NM_000059.3:c.8953+91_8953+92del , LRG_293t1:c.8953+91_8953+92del NP_000050.2:n.8953+91_8953+92del
XM_011535203.1:c.8953+91_8953+92del XP_011533505.1:n.8953+91_8953+92del
XM_011535204.1:c.8857+91_8857+92del XP_011533506.1:n.8857+91_8857+92del
XM_011535205.1:c.8755-144_8755-143del XP_011533507.1:n.8755-144_8755-143del
NM_000059.4:c.8953+91_8953+92del MANE Select NP_000050.3:n.8953+91_8953+92del