Canonical Allele Identifier: CA16613922
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409425
ClinVar RCV Id: RCV000470864 RCV000661678
dbSNP Id: rs1060502385
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32332376_32332378delinsTT , CM000675.2:g.32332376_32332378delinsTT GRCh38
NC_000013.10:g.32906513_32906515delinsTT , CM000675.1:g.32906513_32906515delinsTT GRCh37
NC_000013.9:g.31804513_31804515delinsTT NCBI36
NG_012772.3:g.21897_21899delinsTT , LRG_293:g.21897_21899delinsTT

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.898_900delinsTT ENSP00000434898.2:p.Val300LeufsTer24
ENST00000528762.2:c.898_900delinsTT ENSP00000433168.2:p.Val300LeufsTer24
ENST00000530893.7:c.529_531delinsTT ENSP00000499438.2:p.Val177LeufsTer24
ENST00000665585.2:c.898_900delinsTT ENSP00000499570.2:p.Val300LeufsTer24
ENST00000666593.2:c.898_900delinsTT ENSP00000499256.2:p.Val300LeufsTer24
ENST00000700202.2:c.898_900delinsTT ENSP00000514856.2:p.Val300LeufsTer24
ENST00000700201.1:c.*677_*679delinsTT ENSP00000514855.1:n.*677_*679delinsTT
ENST00000380152.8:c.898_900delinsTT MANE Select ENSP00000369497.3:p.Val300LeufsTer24
ENST00000544455.6:c.898_900delinsTT ENSP00000439902.1:p.Val300LeufsTer24
ENST00000614259.2:c.898_900delinsTT ENSP00000506251.1:p.Val300LeufsTer24
ENST00000680887.1:c.898_900delinsTT ENSP00000505508.1:p.Val300LeufsTer24
ENST00000380152.7:c.898_900delinsTT ENSP00000369497.3:p.Val300LeufsTer24
ENST00000530893.6:n.1096_1098delinsTT
ENST00000544455.5:c.898_900delinsTT ENSP00000439902.1:p.Val300LeufsTer24
ENST00000614259.1:n.898_900delinsTT
NM_000059.3:c.898_900delinsTT , LRG_293t1:c.898_900delinsTT NP_000050.2:p.Val300LeufsTer24
XM_011535203.1:c.898_900delinsTT XP_011533505.1:p.Val300LeufsTer24
XM_011535204.1:c.898_900delinsTT XP_011533506.1:p.Val300LeufsTer24
XM_011535205.1:c.898_900delinsTT XP_011533507.1:p.Val300LeufsTer24
NM_000059.4:c.898_900delinsTT MANE Select NP_000050.3:p.Val300LeufsTer24
Search 100 bp 5'
Search 100 bp 3'