Canonical Allele Identifier: CA2622602626

Gene: BRCA2

Linked Data

• gnomAD v4: 13-32397138-ATTAAAC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32397143_32397148del , CM000675.2:g.32397143_32397148del	GRCh38
NC_000013.10:g.32971280_32971285del , CM000675.1:g.32971280_32971285del	GRCh37
NC_000013.9:g.31869280_31869285del	NCBI36
NG_012772.3:g.86664_86669del , LRG_293:g.86664_86669del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*171+99_*171+104del	ENSP00000434898.2:n.*171+99_*171+104del
ENST00000528762.2:c.*1015+99_*1015+104del	ENSP00000433168.2:n.*1015+99_*1015+104del
ENST00000530893.7:c.9279+99_9279+104del	ENSP00000499438.2:n.9279+99_9279+104del
ENST00000665585.2:c.*1210+99_*1210+104del	ENSP00000499570.2:n.*1210+99_*1210+104del
ENST00000700202.2:c.9597+99_9597+104del	ENSP00000514856.2:n.9597+99_9597+104del
ENST00000700202.1:c.2064+99_2064+104del	ENSP00000514856.1:n.2064+99_2064+104del
ENST00000700203.1:n.1775+99_1775+104del
ENST00000380152.8:c.9648+99_9648+104del MANE Select	ENSP00000369497.3:n.9648+99_9648+104del
ENST00000544455.6:c.9648+99_9648+104del	ENSP00000439902.1:n.9648+99_9648+104del
ENST00000614259.2:c.9656+99_9656+104del	ENSP00000506251.1:n.9656+99_9656+104del
ENST00000665585.1:c.2526+99_2526+104del
ENST00000680887.1:c.9648+99_9648+104del	ENSP00000505508.1:n.9648+99_9648+104del
ENST00000380152.7:c.9648+99_9648+104del	ENSP00000369497.3:n.9648+99_9648+104del
ENST00000470094.1:c.731+99_731+104del
ENST00000533776.1:n.236+99_236+104del
ENST00000544455.5:c.9648+99_9648+104del	ENSP00000439902.1:n.9648+99_9648+104del
NM_000059.3:c.9648+99_9648+104del , LRG_293t1:c.9648+99_9648+104del	NP_000050.2:n.9648+99_9648+104del
XM_011535203.1:c.9648+99_9648+104del	XP_011533505.1:n.9648+99_9648+104del
XM_011535204.1:c.9552+99_9552+104del	XP_011533506.1:n.9552+99_9552+104del
NM_000059.4:c.9648+99_9648+104del MANE Select	NP_000050.3:n.9648+99_9648+104del