Canonical Allele Identifier: CA025629

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38159
• ClinVar RCV Id: RCV003473220
• dbSNP Id: rs397507402
• MyVariant Identifiers: chr13:g.32944621_32944623delinsC (hg19) ; chr13:g.32370484_32370486delinsC (hg38)
• PubMed: PMID:26150619

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370484_32370486delinsC , CM000675.2:g.32370484_32370486delinsC	GRCh38
NC_000013.10:g.32944621_32944623delinsC , CM000675.1:g.32944621_32944623delinsC	GRCh37
NC_000013.9:g.31842621_31842623delinsC	NCBI36
NG_012772.3:g.60005_60007delinsC , LRG_293:g.60005_60007delinsC

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.8414_8416delinsC	ENSP00000434898.2:p.Leu2805SerfsTer6
ENST00000528762.2:c.8414_8416delinsC	ENSP00000433168.2:p.Leu2805SerfsTer6
ENST00000530893.7:c.8045_8047delinsC	ENSP00000499438.2:p.Leu2682SerfsTer6
ENST00000665585.2:c.8414_8416delinsC	ENSP00000499570.2:p.Leu2805SerfsTer6
ENST00000666593.2:c.8414_8416delinsC	ENSP00000499256.2:p.Leu2805SerfsTer6
ENST00000700202.2:c.8414_8416delinsC	ENSP00000514856.2:p.Leu2805SerfsTer6
ENST00000700202.1:c.881_883delinsC	ENSP00000514856.1:p.Leu294SerfsTer6
ENST00000380152.8:c.8414_8416delinsC MANE Select	ENSP00000369497.3:p.Leu2805SerfsTer6
ENST00000544455.6:c.8414_8416delinsC	ENSP00000439902.1:p.Leu2805SerfsTer6
ENST00000614259.2:c.8422_8424delinsC	ENSP00000506251.1:n.8422_8424delinsC
ENST00000665585.1:c.979_981delinsC
ENST00000680887.1:c.8414_8416delinsC	ENSP00000505508.1:p.Leu2805SerfsTer6
ENST00000380152.7:c.8414_8416delinsC	ENSP00000369497.3:p.Leu2805SerfsTer6
ENST00000544455.5:c.8414_8416delinsC	ENSP00000439902.1:p.Leu2805SerfsTer6
NM_000059.3:c.8414_8416delinsC , LRG_293t1:c.8414_8416delinsC	NP_000050.2:p.Leu2805SerfsTer6
XM_011535203.1:c.8414_8416delinsC	XP_011533505.1:p.Leu2805SerfsTer6
XM_011535204.1:c.8318_8320delinsC	XP_011533506.1:p.Leu2773SerfsTer6
XM_011535205.1:c.8414_8416delinsC	XP_011533507.1:p.Leu2805SerfsTer6
NM_000059.4:c.8414_8416delinsC MANE Select	NP_000050.3:p.Leu2805SerfsTer6