Canonical Allele Identifier: CA2697551770

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2774959
• ClinVar RCV Id: RCV003585018

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376714_32376715del , CM000675.2:g.32376714_32376715del	GRCh38
NC_000013.10:g.32950851_32950852del , CM000675.1:g.32950851_32950852del	GRCh37
NC_000013.9:g.31848851_31848852del	NCBI36
NG_012772.3:g.66235_66236del , LRG_293:g.66235_66236del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8677_8678del	ENSP00000434898.2:p.Gln2893AlafsTer13
ENST00000528762.2:c.*44_*45del	ENSP00000433168.2:n.*44_*45del
ENST00000530893.7:c.8308_8309del	ENSP00000499438.2:p.Gln2770AlafsTer13
ENST00000665585.2:c.*239_*240del	ENSP00000499570.2:n.*239_*240del
ENST00000666593.2:c.8677_8678del	ENSP00000499256.2:p.Gln2893AlafsTer13
ENST00000700202.2:c.8677_8678del	ENSP00000514856.2:p.Gln2893AlafsTer13
ENST00000700202.1:c.1144_1145del	ENSP00000514856.1:p.Gln382AlafsTer13
ENST00000700203.1:n.804_805del
ENST00000380152.8:c.8677_8678del MANE Select	ENSP00000369497.3:p.Gln2893AlafsTer13
ENST00000544455.6:c.8677_8678del	ENSP00000439902.1:p.Gln2893AlafsTer13
ENST00000614259.2:c.8685_8686del	ENSP00000506251.1:n.8685_8686del
ENST00000665585.1:c.1555_1556del
ENST00000680887.1:c.8677_8678del	ENSP00000505508.1:p.Gln2893AlafsTer13
ENST00000380152.7:c.8677_8678del	ENSP00000369497.3:p.Gln2893AlafsTer13
ENST00000528762.1:c.239_240del	ENSP00000433168.1:n.239_240del
ENST00000544455.5:c.8677_8678del	ENSP00000439902.1:p.Gln2893AlafsTer13
NM_000059.3:c.8677_8678del , LRG_293t1:c.8677_8678del	NP_000050.2:p.Gln2893AlafsTer13
XM_011535203.1:c.8677_8678del	XP_011533505.1:p.Gln2893AlafsTer13
XM_011535204.1:c.8581_8582del	XP_011533506.1:p.Gln2861AlafsTer13
XM_011535205.1:c.8677_8678del	XP_011533507.1:p.Gln2893AlafsTer13
NM_000059.4:c.8677_8678del MANE Select	NP_000050.3:p.Gln2893AlafsTer13