Canonical Allele Identifier: CA16619740
Gene: BRCA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 419418
ClinVar RCV Id: RCV000479160
dbSNP Id: rs1064793860
MyVariant Identifiers: chr13:g.32914765_32914766insA (hg19) chr13:g.32340628_32340629insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32340628_32340629insA , CM000675.2:g.32340628_32340629insA GRCh38
NC_000013.10:g.32914765_32914766insA , CM000675.1:g.32914765_32914766insA GRCh37
NC_000013.9:g.31812765_31812766insA NCBI36
NG_012772.3:g.30149_30150insA , LRG_293:g.30149_30150insA

Transcript Alleles

HGVS Amino-acid change
ENST00000470094.2:c.6273_6274insA ENSP00000434898.2:p.Leu2092ThrfsTer8
ENST00000528762.2:c.6273_6274insA ENSP00000433168.2:p.Leu2092ThrfsTer8
ENST00000530893.7:c.5904_5905insA ENSP00000499438.2:p.Leu1969ThrfsTer8
ENST00000665585.2:c.6273_6274insA ENSP00000499570.2:p.Leu2092ThrfsTer8
ENST00000666593.2:c.6273_6274insA ENSP00000499256.2:p.Leu2092ThrfsTer8
ENST00000700202.2:c.6273_6274insA ENSP00000514856.2:p.Leu2092ThrfsTer8
ENST00000380152.8:c.6273_6274insA MANE Select ENSP00000369497.3:p.Leu2092ThrfsTer8
ENST00000544455.6:c.6273_6274insA ENSP00000439902.1:p.Leu2092ThrfsTer8
ENST00000614259.2:c.6273_6274insA ENSP00000506251.1:p.Leu2092ThrfsTer8
ENST00000680887.1:c.6273_6274insA ENSP00000505508.1:p.Leu2092ThrfsTer8
ENST00000380152.7:c.6273_6274insA ENSP00000369497.3:p.Leu2092ThrfsTer8
ENST00000544455.5:c.6273_6274insA ENSP00000439902.1:p.Leu2092ThrfsTer8
ENST00000614259.1:n.6273_6274insA
NM_000059.3:c.6273_6274insA , LRG_293t1:c.6273_6274insA NP_000050.2:p.Leu2092ThrfsTer8
XM_011535203.1:c.6273_6274insA XP_011533505.1:p.Leu2092ThrfsTer8
XM_011535204.1:c.6273_6274insA XP_011533506.1:p.Leu2092ThrfsTer8
XM_011535205.1:c.6273_6274insA XP_011533507.1:p.Leu2092ThrfsTer8
NM_000059.4:c.6273_6274insA MANE Select NP_000050.3:p.Leu2092ThrfsTer8
Search 100 bp 5'
Search 100 bp 3'