Canonical Allele Identifier: CA16619762
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 422598
ClinVar RCV Id: RCV000481992 RCV000661701 RCV001234373 RCV002383926
dbSNP Id: rs1064795884
MyVariant Identifiers: chr13:g.32930588_32930613del (hg19) chr13:g.32356451_32356476del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356451_32356476del , CM000675.2:g.32356451_32356476del GRCh38
NC_000013.10:g.32930588_32930613del , CM000675.1:g.32930588_32930613del GRCh37
NC_000013.9:g.31828588_31828613del NCBI36
NG_012772.3:g.45972_45997del , LRG_293:g.45972_45997del

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.7459_7484del ENSP00000434898.2:p.Ala2487Ter
ENST00000528762.2:c.7459_7484del ENSP00000433168.2:p.Ala2487Ter
ENST00000530893.7:c.7090_7115del ENSP00000499438.2:p.Ala2364Ter
ENST00000665585.2:c.7459_7484del ENSP00000499570.2:p.Ala2487Ter
ENST00000666593.2:c.7459_7484del ENSP00000499256.2:p.Ala2487Ter
ENST00000700202.2:c.7459_7484del ENSP00000514856.2:p.Ala2487Ter
ENST00000380152.8:c.7459_7484del MANE Select ENSP00000369497.3:p.Ala2487Ter
ENST00000544455.6:c.7459_7484del ENSP00000439902.1:p.Ala2487Ter
ENST00000614259.2:c.7459_7484del ENSP00000506251.1:p.Ala2487Ter
ENST00000665585.1:c.24_49del
ENST00000680887.1:c.7459_7484del ENSP00000505508.1:p.Ala2487Ter
ENST00000380152.7:c.7459_7484del ENSP00000369497.3:p.Ala2487Ter
ENST00000544455.5:c.7459_7484del ENSP00000439902.1:p.Ala2487Ter
ENST00000614259.1:n.7459_7484del
NM_000059.3:c.7459_7484del , LRG_293t1:c.7459_7484del NP_000050.2:p.Ala2487Ter
XM_011535203.1:c.7459_7484del XP_011533505.1:p.Ala2487Ter
XM_011535204.1:c.7363_7388del XP_011533506.1:p.Ala2455Ter
XM_011535205.1:c.7459_7484del XP_011533507.1:p.Ala2487Ter
NM_000059.4:c.7459_7484del MANE Select NP_000050.3:p.Ala2487Ter
Search 100 bp 5'
Search 100 bp 3'