Canonical Allele Identifier: CA919243091

Gene: BRCA2

Linked Data

• dbSNP Id: rs1566252844

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379509_32379510del , CM000675.2:g.32379509_32379510del	GRCh38
NC_000013.10:g.32953646_32953647del , CM000675.1:g.32953646_32953647del	GRCh37
NC_000013.9:g.31851646_31851647del	NCBI36
NG_012772.3:g.69030_69031del , LRG_293:g.69030_69031del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8947_8948del	ENSP00000434898.2:p.Asp2983PhefsTer?
ENST00000528762.2:c.*314_*315del	ENSP00000433168.2:n.*314_*315del
ENST00000530893.7:c.8578_8579del	ENSP00000499438.2:p.Asp2860PhefsTer?
ENST00000665585.2:c.*509_*510del	ENSP00000499570.2:n.*509_*510del
ENST00000666593.2:c.8947_8948del	ENSP00000499256.2:p.Asp2983PhefsTer?
ENST00000700202.2:c.8947_8948del	ENSP00000514856.2:p.Asp2983PhefsTer17
ENST00000700202.1:c.1414_1415del	ENSP00000514856.1:p.Asp472PhefsTer17
ENST00000700203.1:n.1074_1075del
ENST00000380152.8:c.8947_8948del MANE Select	ENSP00000369497.3:p.Asp2983PhefsTer?
ENST00000544455.6:c.8947_8948del	ENSP00000439902.1:p.Asp2983PhefsTer?
ENST00000614259.2:c.8955_8956del	ENSP00000506251.1:n.8955_8956del
ENST00000665585.1:c.1825_1826del
ENST00000680887.1:c.8947_8948del	ENSP00000505508.1:p.Asp2983PhefsTer?
ENST00000380152.7:c.8947_8948del	ENSP00000369497.3:p.Asp2983PhefsTer?
ENST00000544455.5:c.8947_8948del	ENSP00000439902.1:p.Asp2983PhefsTer?
NM_000059.3:c.8947_8948del , LRG_293t1:c.8947_8948del	NP_000050.2:p.Asp2983PhefsTer?
XM_011535203.1:c.8947_8948del	XP_011533505.1:p.Asp2983PhefsTer?
XM_011535204.1:c.8851_8852del	XP_011533506.1:p.Asp2951PhefsTer?
XM_011535205.1:c.8755-241_8755-240del	XP_011533507.1:n.8755-241_8755-240del
NM_000059.4:c.8947_8948del MANE Select	NP_000050.3:p.Asp2983PhefsTer?