Canonical Allele Identifier: CA012626

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 51155
• ClinVar RCV Id: RCV000577010 ; RCV000661417
• dbSNP Id: rs397507597
• MyVariant Identifiers: chr13:g.32907227_32907228del (hg19) ; chr13:g.32333090_32333091del (hg38)
• PubMed: PMID:22762150

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32333090_32333091del , CM000675.2:g.32333090_32333091del	GRCh38
NC_000013.10:g.32907227_32907228del , CM000675.1:g.32907227_32907228del	GRCh37
NC_000013.9:g.31805227_31805228del	NCBI36
NG_012772.3:g.22611_22612del , LRG_293:g.22611_22612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.1612_1613del	ENSP00000434898.2:p.Ser538TrpfsTer21
ENST00000528762.2:c.1612_1613del	ENSP00000433168.2:p.Ser538TrpfsTer21
ENST00000530893.7:c.1243_1244del	ENSP00000499438.2:p.Ser415TrpfsTer21
ENST00000665585.2:c.1612_1613del	ENSP00000499570.2:p.Ser538TrpfsTer21
ENST00000666593.2:c.1612_1613del	ENSP00000499256.2:p.Ser538TrpfsTer21
ENST00000700202.2:c.1612_1613del	ENSP00000514856.2:p.Ser538TrpfsTer21
ENST00000700201.1:c.*1391_*1392del	ENSP00000514855.1:n.*1391_*1392del
ENST00000380152.8:c.1612_1613del MANE Select	ENSP00000369497.3:p.Ser538TrpfsTer21
ENST00000544455.6:c.1612_1613del	ENSP00000439902.1:p.Ser538TrpfsTer21
ENST00000614259.2:c.1612_1613del	ENSP00000506251.1:p.Ser538TrpfsTer21
ENST00000680887.1:c.1612_1613del	ENSP00000505508.1:p.Ser538TrpfsTer21
ENST00000380152.7:c.1612_1613del	ENSP00000369497.3:p.Ser538TrpfsTer21
ENST00000530893.6:n.1810_1811del
ENST00000544455.5:c.1612_1613del	ENSP00000439902.1:p.Ser538TrpfsTer21
ENST00000614259.1:n.1612_1613del
NM_000059.3:c.1612_1613del , LRG_293t1:c.1612_1613del	NP_000050.2:p.Ser538TrpfsTer21
XM_011535203.1:c.1612_1613del	XP_011533505.1:p.Ser538TrpfsTer21
XM_011535204.1:c.1612_1613del	XP_011533506.1:p.Ser538TrpfsTer21
XM_011535205.1:c.1612_1613del	XP_011533507.1:p.Ser538TrpfsTer21
NM_000059.4:c.1612_1613del MANE Select	NP_000050.3:p.Ser538TrpfsTer21