Canonical Allele Identifier: CA954700254

Gene: BRCA2

Linked Data

• dbSNP Id: rs2072745144
• gnomAD v3: 13-32362556-GCTTA-G
• gnomAD v4: 13-32362556-GCTTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32362557_32362560del , CM000675.2:g.32362557_32362560del	GRCh38
NC_000013.10:g.32936694_32936697del , CM000675.1:g.32936694_32936697del	GRCh37
NC_000013.9:g.31834694_31834697del	NCBI36
NG_012772.3:g.52078_52081del , LRG_293:g.52078_52081del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.7840_7843del	ENSP00000434898.2:p.Leu2614PhefsTer?
ENST00000528762.2:c.7840_7843del	ENSP00000433168.2:p.Leu2614PhefsTer?
ENST00000530893.7:c.7471_7474del	ENSP00000499438.2:p.Leu2491PhefsTer?
ENST00000665585.2:c.7840_7843del	ENSP00000499570.2:p.Leu2614PhefsTer?
ENST00000666593.2:c.7840_7843del	ENSP00000499256.2:p.Leu2614PhefsTer?
ENST00000700202.2:c.7840_7843del	ENSP00000514856.2:p.Leu2614PhefsTer?
ENST00000700202.1:c.307_310del	ENSP00000514856.1:p.Leu103PhefsTer?
ENST00000380152.8:c.7840_7843del MANE Select	ENSP00000369497.3:p.Leu2614PhefsTer?
ENST00000544455.6:c.7840_7843del	ENSP00000439902.1:p.Leu2614PhefsTer?
ENST00000614259.2:c.7848_7851del	ENSP00000506251.1:p.Leu2617PhefsTer2
ENST00000665585.1:c.405_408del
ENST00000680887.1:c.7840_7843del	ENSP00000505508.1:p.Leu2614PhefsTer?
ENST00000380152.7:c.7840_7843del	ENSP00000369497.3:p.Leu2614PhefsTer?
ENST00000544455.5:c.7840_7843del	ENSP00000439902.1:p.Leu2614PhefsTer?
ENST00000614259.1:n.7848_7851del
NM_000059.3:c.7840_7843del , LRG_293t1:c.7840_7843del	NP_000050.2:p.Leu2614PhefsTer?
XM_011535203.1:c.7840_7843del	XP_011533505.1:p.Leu2614PhefsTer?
XM_011535204.1:c.7744_7747del	XP_011533506.1:p.Leu2582PhefsTer?
XM_011535205.1:c.7840_7843del	XP_011533507.1:p.Leu2614PhefsTer?
NM_000059.4:c.7840_7843del MANE Select	NP_000050.3:p.Leu2614PhefsTer?