Canonical Allele Identifier: CA025779

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38178
• ClinVar RCV Id: RCV000031761 ; RCV000476800 ; RCV000219473 ; RCV001354032
• dbSNP Id: rs397507410
• MyVariant Identifiers: chr13:g.32950854del (hg19) ; chr13:g.32376717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32376717del , CM000675.2:g.32376717del	GRCh38
NC_000013.10:g.32950854del , CM000675.1:g.32950854del	GRCh37
NC_000013.9:g.31848854del	NCBI36
NG_012772.3:g.66238del , LRG_293:g.66238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8680del	ENSP00000434898.2:p.Gln2894LysfsTer15
ENST00000528762.2:c.*47del	ENSP00000433168.2:n.*47del
ENST00000530893.7:c.8311del	ENSP00000499438.2:p.Gln2771LysfsTer15
ENST00000665585.2:c.*242del	ENSP00000499570.2:n.*242del
ENST00000666593.2:c.8680del	ENSP00000499256.2:p.Gln2894LysfsTer15
ENST00000700202.2:c.8680del	ENSP00000514856.2:p.Gln2894LysfsTer15
ENST00000700202.1:c.1147del	ENSP00000514856.1:p.Gln383LysfsTer15
ENST00000700203.1:n.807del
ENST00000380152.8:c.8680del MANE Select	ENSP00000369497.3:p.Gln2894LysfsTer15
ENST00000544455.6:c.8680del	ENSP00000439902.1:p.Gln2894LysfsTer15
ENST00000614259.2:c.8688del	ENSP00000506251.1:n.8688del
ENST00000665585.1:c.1558del
ENST00000680887.1:c.8680del	ENSP00000505508.1:p.Gln2894LysfsTer15
ENST00000380152.7:c.8680del	ENSP00000369497.3:p.Gln2894LysfsTer15
ENST00000528762.1:c.242del	ENSP00000433168.1:n.242del
ENST00000544455.5:c.8680del	ENSP00000439902.1:p.Gln2894LysfsTer15
NM_000059.3:c.8680del , LRG_293t1:c.8680del	NP_000050.2:p.Gln2894LysfsTer15
XM_011535203.1:c.8680del	XP_011533505.1:p.Gln2894LysfsTer15
XM_011535204.1:c.8584del	XP_011533506.1:p.Gln2862LysfsTer15
XM_011535205.1:c.8680del	XP_011533507.1:p.Gln2894LysfsTer15
NM_000059.4:c.8680del MANE Select	NP_000050.3:p.Gln2894LysfsTer15