Canonical Allele Identifier: CA021774

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 126063
• ClinVar RCV Id: RCV000113407 ; RCV000160295 ; RCV001183270 ; RCV001854526
• dbSNP Id: rs80359498
• gnomAD v4: 13-32339573-TTAAG-T
• MyVariant Identifiers: chr13:g.32913714_32913717del (hg19) ; chr13:g.32339577_32339580del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32339577_32339580del , CM000675.2:g.32339577_32339580del	GRCh38
NC_000013.10:g.32913714_32913717del , CM000675.1:g.32913714_32913717del	GRCh37
NC_000013.9:g.31811714_31811717del	NCBI36
NG_012772.3:g.29098_29101del , LRG_293:g.29098_29101del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.5222_5225del	ENSP00000434898.2:p.Ser1741ThrfsTer?
ENST00000528762.2:c.5222_5225del	ENSP00000433168.2:p.Ser1741ThrfsTer?
ENST00000530893.7:c.4853_4856del	ENSP00000499438.2:p.Ser1618ThrfsTer?
ENST00000665585.2:c.5222_5225del	ENSP00000499570.2:p.Ser1741ThrfsTer?
ENST00000666593.2:c.5222_5225del	ENSP00000499256.2:p.Ser1741ThrfsTer?
ENST00000700202.2:c.5222_5225del	ENSP00000514856.2:p.Ser1741ThrfsTer?
ENST00000380152.8:c.5222_5225del MANE Select	ENSP00000369497.3:p.Ser1741ThrfsTer?
ENST00000544455.6:c.5222_5225del	ENSP00000439902.1:p.Ser1741ThrfsTer?
ENST00000614259.2:c.5222_5225del	ENSP00000506251.1:p.Ser1741ThrfsTer?
ENST00000680887.1:c.5222_5225del	ENSP00000505508.1:p.Ser1741ThrfsTer?
ENST00000380152.7:c.5222_5225del	ENSP00000369497.3:p.Ser1741ThrfsTer?
ENST00000544455.5:c.5222_5225del	ENSP00000439902.1:p.Ser1741ThrfsTer?
ENST00000614259.1:n.5222_5225del
NM_000059.3:c.5222_5225del , LRG_293t1:c.5222_5225del	NP_000050.2:p.Ser1741ThrfsTer?
XM_011535203.1:c.5222_5225del	XP_011533505.1:p.Ser1741ThrfsTer?
XM_011535204.1:c.5222_5225del	XP_011533506.1:p.Ser1741ThrfsTer?
XM_011535205.1:c.5222_5225del	XP_011533507.1:p.Ser1741ThrfsTer?
NM_000059.4:c.5222_5225del MANE Select	NP_000050.3:p.Ser1741ThrfsTer?