Canonical Allele Identifier: CA16042138
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371846
ClinVar RCV Id: RCV000409605 RCV000588007
dbSNP Id: rs1057517566
gnomAD v2: 13-32911567-GAA-G
gnomAD v4: 13-32337430-GAA-G
MyVariant Identifiers: chr13:g.32911568_32911569del (hg19) chr13:g.32337431_32337432del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32337431_32337432del , CM000675.2:g.32337431_32337432del GRCh38
NC_000013.10:g.32911568_32911569del , CM000675.1:g.32911568_32911569del GRCh37
NC_000013.9:g.31809568_31809569del NCBI36
NG_012772.3:g.26952_26953del , LRG_293:g.26952_26953del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.3076_3077del ENSP00000434898.2:p.Lys1026GlufsTer9
ENST00000528762.2:c.3076_3077del ENSP00000433168.2:p.Lys1026GlufsTer9
ENST00000530893.7:c.2707_2708del ENSP00000499438.2:p.Lys903GlufsTer9
ENST00000665585.2:c.3076_3077del ENSP00000499570.2:p.Lys1026GlufsTer9
ENST00000666593.2:c.3076_3077del ENSP00000499256.2:p.Lys1026GlufsTer9
ENST00000700202.2:c.3076_3077del ENSP00000514856.2:p.Lys1026GlufsTer9
ENST00000380152.8:c.3076_3077del MANE Select ENSP00000369497.3:p.Lys1026GlufsTer9
ENST00000544455.6:c.3076_3077del ENSP00000439902.1:p.Lys1026GlufsTer9
ENST00000614259.2:c.3076_3077del ENSP00000506251.1:p.Lys1026GlufsTer9
ENST00000680887.1:c.3076_3077del ENSP00000505508.1:p.Lys1026GlufsTer9
ENST00000380152.7:c.3076_3077del ENSP00000369497.3:p.Lys1026GlufsTer9
ENST00000544455.5:c.3076_3077del ENSP00000439902.1:p.Lys1026GlufsTer9
ENST00000614259.1:n.3076_3077del
NM_000059.3:c.3076_3077del , LRG_293t1:c.3076_3077del NP_000050.2:p.Lys1026GlufsTer9
XM_011535203.1:c.3076_3077del XP_011533505.1:p.Lys1026GlufsTer9
XM_011535204.1:c.3076_3077del XP_011533506.1:p.Lys1026GlufsTer9
XM_011535205.1:c.3076_3077del XP_011533507.1:p.Lys1026GlufsTer9
NM_000059.4:c.3076_3077del MANE Select NP_000050.3:p.Lys1026GlufsTer9
Search 100 bp 5'
Search 100 bp 3'