Canonical Allele Identifier: CA024953

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 125993
• ClinVar RCV Id: RCV000113090 ; RCV000509918
• dbSNP Id: rs80359637
• MyVariant Identifiers: chr13:g.32893217_32893242del (hg19) ; chr13:g.32319080_32319105del (hg38)
• PubMed: PMID:9150172 ; PMID:21939546

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319080_32319105del , CM000675.2:g.32319080_32319105del	GRCh38
NC_000013.10:g.32893217_32893242del , CM000675.1:g.32893217_32893242del	GRCh37
NC_000013.9:g.31791217_31791242del	NCBI36
NG_012772.3:g.8601_8626del , LRG_293:g.8601_8626del
NG_017006.2:g.1261_1286del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.71_96del	ENSP00000434898.2:p.Leu24Ter
ENST00000528762.2:c.71_96del	ENSP00000433168.2:p.Leu24Ter
ENST00000530893.7:c.-299_-274del	ENSP00000499438.2:n.-299_-274del
ENST00000665585.2:c.71_96del	ENSP00000499570.2:p.Leu24Ter
ENST00000666593.2:c.71_96del	ENSP00000499256.2:p.Leu24Ter
ENST00000700202.2:c.71_96del	ENSP00000514856.2:p.Leu24Ter
ENST00000700200.1:n.191+2553_191+2578del
ENST00000700201.1:c.71_96del	ENSP00000514855.1:p.Leu24Ter
ENST00000380152.8:c.71_96del MANE Select	ENSP00000369497.3:p.Leu24Ter
ENST00000544455.6:c.71_96del	ENSP00000439902.1:p.Leu24Ter
ENST00000614259.2:c.71_96del	ENSP00000506251.1:p.Leu24Ter
ENST00000680887.1:c.71_96del	ENSP00000505508.1:p.Leu24Ter
ENST00000380152.7:c.71_96del	ENSP00000369497.3:p.Leu24Ter
ENST00000530893.6:n.269_294del
ENST00000544455.5:c.71_96del	ENSP00000439902.1:p.Leu24Ter
ENST00000614259.1:n.71_96del
NM_000059.3:c.71_96del , LRG_293t1:c.71_96del	NP_000050.2:p.Leu24Ter
XM_011535203.1:c.71_96del	XP_011533505.1:p.Leu24Ter
XM_011535204.1:c.71_96del	XP_011533506.1:p.Leu24Ter
XM_011535205.1:c.71_96del	XP_011533507.1:p.Leu24Ter
NM_000059.4:c.71_96del MANE Select	NP_000050.3:p.Leu24Ter