Canonical Allele Identifier: CA2580614704

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1192527
• ClinVar RCV Id: RCV001554316 ; RCV003478872
• dbSNP Id: rs2137622356

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379791_32379792del , CM000675.2:g.32379791_32379792del	GRCh38
NC_000013.10:g.32953928_32953929del , CM000675.1:g.32953928_32953929del	GRCh37
NC_000013.9:g.31851928_31851929del	NCBI36
NG_012772.3:g.69312_69313del , LRG_293:g.69312_69313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8995_8996del	ENSP00000434898.2:p.Leu2999ValfsTer18
ENST00000528762.2:c.*362_*363del	ENSP00000433168.2:n.*362_*363del
ENST00000530893.7:c.8626_8627del	ENSP00000499438.2:p.Leu2876ValfsTer18
ENST00000665585.2:c.*557_*558del	ENSP00000499570.2:n.*557_*558del
ENST00000666593.2:c.8995_8996del	ENSP00000499256.2:p.Leu2999ValfsTer18
ENST00000700202.2:c.8954-10_8954-9del	ENSP00000514856.2:n.8954-10_8954-9del
ENST00000700202.1:c.1421-10_1421-9del	ENSP00000514856.1:n.1421-10_1421-9del
ENST00000700203.1:n.1122_1123del
ENST00000380152.8:c.8995_8996del MANE Select	ENSP00000369497.3:p.Leu2999ValfsTer18
ENST00000544455.6:c.8995_8996del	ENSP00000439902.1:p.Leu2999ValfsTer18
ENST00000614259.2:c.9003_9004del	ENSP00000506251.1:n.9003_9004del
ENST00000665585.1:c.1873_1874del
ENST00000680887.1:c.8995_8996del	ENSP00000505508.1:p.Leu2999ValfsTer18
ENST00000380152.7:c.8995_8996del	ENSP00000369497.3:p.Leu2999ValfsTer18
ENST00000544455.5:c.8995_8996del	ENSP00000439902.1:p.Leu2999ValfsTer18
NM_000059.3:c.8995_8996del , LRG_293t1:c.8995_8996del	NP_000050.2:p.Leu2999ValfsTer18
XM_011535203.1:c.8995_8996del	XP_011533505.1:p.Leu2999ValfsTer18
XM_011535204.1:c.8899_8900del	XP_011533506.1:p.Leu2967ValfsTer18
XM_011535205.1:c.*33_*34del	XP_011533507.1:n.*33_*34del
NM_000059.4:c.8995_8996del MANE Select	NP_000050.3:p.Leu2999ValfsTer18