Canonical Allele Identifier: CA10586496

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254493
• ClinVar RCV Id: RCV000241298
• dbSNP Id: rs886038066
• MyVariant Identifiers: chr13:g.32907122_32907123del (hg19) ; chr13:g.32332985_32332986del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332985_32332986del , CM000675.2:g.32332985_32332986del	GRCh38
NC_000013.10:g.32907122_32907123del , CM000675.1:g.32907122_32907123del	GRCh37
NC_000013.9:g.31805122_31805123del	NCBI36
NG_012772.3:g.22506_22507del , LRG_293:g.22506_22507del

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1507_1508del	ENSP00000434898.2:p.Lys503ValfsTer10
ENST00000528762.2:c.1507_1508del	ENSP00000433168.2:p.Lys503ValfsTer10
ENST00000530893.7:c.1138_1139del	ENSP00000499438.2:p.Lys380ValfsTer10
ENST00000665585.2:c.1507_1508del	ENSP00000499570.2:p.Lys503ValfsTer10
ENST00000666593.2:c.1507_1508del	ENSP00000499256.2:p.Lys503ValfsTer10
ENST00000700202.2:c.1507_1508del	ENSP00000514856.2:p.Lys503ValfsTer10
ENST00000700201.1:c.*1286_*1287del	ENSP00000514855.1:n.*1286_*1287del
ENST00000380152.8:c.1507_1508del MANE Select	ENSP00000369497.3:p.Lys503ValfsTer10
ENST00000544455.6:c.1507_1508del	ENSP00000439902.1:p.Lys503ValfsTer10
ENST00000614259.2:c.1507_1508del	ENSP00000506251.1:p.Lys503ValfsTer10
ENST00000680887.1:c.1507_1508del	ENSP00000505508.1:p.Lys503ValfsTer10
ENST00000380152.7:c.1507_1508del	ENSP00000369497.3:p.Lys503ValfsTer10
ENST00000530893.6:n.1705_1706del
ENST00000544455.5:c.1507_1508del	ENSP00000439902.1:p.Lys503ValfsTer10
ENST00000614259.1:n.1507_1508del
NM_000059.3:c.1507_1508del , LRG_293t1:c.1507_1508del	NP_000050.2:p.Lys503ValfsTer10
XM_011535203.1:c.1507_1508del	XP_011533505.1:p.Lys503ValfsTer10
XM_011535204.1:c.1507_1508del	XP_011533506.1:p.Lys503ValfsTer10
XM_011535205.1:c.1507_1508del	XP_011533507.1:p.Lys503ValfsTer10
NM_000059.4:c.1507_1508del MANE Select	NP_000050.3:p.Lys503ValfsTer10