Canonical Allele Identifier: CA026308

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52904
• ClinVar RCV Id: RCV000112815 ; RCV000564446 ; RCV001857382
• dbSNP Id: rs80359245
• gnomAD v4: 13-32398341-A-T
• MyVariant Identifiers: chr13:g.32972478A>T (hg19) ; chr13:g.32398341A>T (hg38)
• PubMed: PMID:9971877

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398341A>T , CM000675.2:g.32398341A>T	GRCh38
NC_000013.10:g.32972478A>T , CM000675.1:g.32972478A>T	GRCh37
NC_000013.9:g.31870478A>T	NCBI36
NG_012772.3:g.87862A>T , LRG_293:g.87862A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*351A>T	ENSP00000434898.2:n.*351A>T
ENST00000528762.2:c.*1195A>T	ENSP00000433168.2:n.*1195A>T
ENST00000530893.7:c.9459A>T	ENSP00000499438.2:p.Arg3153Ser
ENST00000665585.2:c.*1390A>T	ENSP00000499570.2:n.*1390A>T
ENST00000700202.2:c.9777A>T	ENSP00000514856.2:p.Arg3259Ser
ENST00000700202.1:c.2244A>T	ENSP00000514856.1:p.Arg748Ser
ENST00000700203.1:n.1955A>T
ENST00000380152.8:c.9828A>T MANE Select	ENSP00000369497.3:p.Arg3276Ser
ENST00000544455.6:c.9828A>T	ENSP00000439902.1:p.Arg3276Ser
ENST00000614259.2:c.9836A>T	ENSP00000506251.1:n.9836A>T
ENST00000680887.1:c.9828A>T	ENSP00000505508.1:p.Arg3276Ser
ENST00000380152.7:c.9828A>T	ENSP00000369497.3:p.Arg3276Ser
ENST00000533776.1:n.416A>T
ENST00000544455.5:c.9828A>T	ENSP00000439902.1:p.Arg3276Ser
NM_000059.3:c.9828A>T , LRG_293t1:c.9828A>T	NP_000050.2:p.Arg3276Ser
XM_011535203.1:c.9828A>T	XP_011533505.1:p.Arg3276Ser
XM_011535204.1:c.9732A>T	XP_011533506.1:p.Arg3244Ser
NM_000059.4:c.9828A>T MANE Select	NP_000050.3:p.Arg3276Ser