Canonical Allele Identifier: CA2560467039

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137618453
• gnomAD v3: 13-32379221-TTTG-T
• gnomAD v4: 13-32379221-TTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379226_32379228del , CM000675.2:g.32379226_32379228del	GRCh38
NC_000013.10:g.32953363_32953365del , CM000675.1:g.32953363_32953365del	GRCh37
NC_000013.9:g.31851363_31851365del	NCBI36
NG_012772.3:g.68747_68749del , LRG_293:g.68747_68749del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8755-91_8755-89del	ENSP00000434898.2:n.8755-91_8755-89del
ENST00000528762.2:c.*122-91_*122-89del	ENSP00000433168.2:n.*122-91_*122-89del
ENST00000530893.7:c.8386-91_8386-89del	ENSP00000499438.2:n.8386-91_8386-89del
ENST00000665585.2:c.*317-91_*317-89del	ENSP00000499570.2:n.*317-91_*317-89del
ENST00000666593.2:c.8755-91_8755-89del	ENSP00000499256.2:n.8755-91_8755-89del
ENST00000700202.2:c.8755-91_8755-89del	ENSP00000514856.2:n.8755-91_8755-89del
ENST00000700202.1:c.1222-91_1222-89del	ENSP00000514856.1:n.1222-91_1222-89del
ENST00000700203.1:n.882-91_882-89del
ENST00000380152.8:c.8755-91_8755-89del MANE Select	ENSP00000369497.3:n.8755-91_8755-89del
ENST00000544455.6:c.8755-91_8755-89del	ENSP00000439902.1:n.8755-91_8755-89del
ENST00000614259.2:c.8763-91_8763-89del	ENSP00000506251.1:n.8763-91_8763-89del
ENST00000665585.1:c.1633-91_1633-89del
ENST00000680887.1:c.8755-91_8755-89del	ENSP00000505508.1:n.8755-91_8755-89del
ENST00000380152.7:c.8755-91_8755-89del	ENSP00000369497.3:n.8755-91_8755-89del
ENST00000528762.1:c.317-91_317-89del	ENSP00000433168.1:n.317-91_317-89del
ENST00000544455.5:c.8755-91_8755-89del	ENSP00000439902.1:n.8755-91_8755-89del
NM_000059.3:c.8755-91_8755-89del , LRG_293t1:c.8755-91_8755-89del	NP_000050.2:n.8755-91_8755-89del
XM_011535203.1:c.8755-91_8755-89del	XP_011533505.1:n.8755-91_8755-89del
XM_011535204.1:c.8659-91_8659-89del	XP_011533506.1:n.8659-91_8659-89del
XM_011535205.1:c.8755-524_8755-522del	XP_011533507.1:n.8755-524_8755-522del
NM_000059.4:c.8755-91_8755-89del MANE Select	NP_000050.3:n.8755-91_8755-89del