Canonical Allele Identifier: CA954696415

Gene: BRCA2

Linked Data

• dbSNP Id: rs876659435
• gnomAD v3: 13-32394842-CT-C
• gnomAD v4: 13-32394842-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394845del , CM000675.2:g.32394845del	GRCh38
NC_000013.10:g.32968982del , CM000675.1:g.32968982del	GRCh37
NC_000013.9:g.31866982del	NCBI36
NG_012772.3:g.84366del , LRG_293:g.84366del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9413del	ENSP00000434898.2:p.Leu3138TyrfsTer25
ENST00000528762.2:c.*780del	ENSP00000433168.2:n.*780del
ENST00000530893.7:c.9044del	ENSP00000499438.2:p.Leu3015TyrfsTer25
ENST00000665585.2:c.*975del	ENSP00000499570.2:n.*975del
ENST00000666593.2:c.*258del	ENSP00000499256.2:n.*258del
ENST00000700202.2:c.9362del	ENSP00000514856.2:p.Leu3121TyrfsTer25
ENST00000700202.1:c.1829del	ENSP00000514856.1:p.Leu610TyrfsTer25
ENST00000700203.1:n.1540del
ENST00000380152.8:c.9413del MANE Select	ENSP00000369497.3:p.Leu3138TyrfsTer25
ENST00000544455.6:c.9413del	ENSP00000439902.1:p.Leu3138TyrfsTer25
ENST00000614259.2:c.9421del	ENSP00000506251.1:n.9421del
ENST00000665585.1:c.2291del
ENST00000666593.1:c.435del	ENSP00000499256.1:n.435del
ENST00000680887.1:c.9413del	ENSP00000505508.1:p.Leu3138TyrfsTer25
ENST00000380152.7:c.9413del	ENSP00000369497.3:p.Leu3138TyrfsTer25
ENST00000470094.1:c.370del
ENST00000544455.5:c.9413del	ENSP00000439902.1:p.Leu3138TyrfsTer25
NM_000059.3:c.9413del , LRG_293t1:c.9413del	NP_000050.2:p.Leu3138TyrfsTer25
XM_011535203.1:c.9413del	XP_011533505.1:p.Leu3138TyrfsTer25
XM_011535204.1:c.9317del	XP_011533506.1:p.Leu3106TyrfsTer25
NM_000059.4:c.9413del MANE Select	NP_000050.3:p.Leu3138TyrfsTer25