Canonical Allele Identifier: CA026305

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52903
• ClinVar RCV Id: RCV000112814 ; RCV000222518 ; RCV000276881 ; RCV001345970 ; RCV003460637
• dbSNP Id: rs80359244
• gnomAD v2: 13-32972470-T-G
• gnomAD v3: 13-32398333-T-G
• gnomAD v4: 13-32398333-T-G
• MyVariant Identifiers: chr13:g.32972470T>G (hg19) ; chr13:g.32398333T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398333T>G , CM000675.2:g.32398333T>G	GRCh38
NC_000013.10:g.32972470T>G , CM000675.1:g.32972470T>G	GRCh37
NC_000013.9:g.31870470T>G	NCBI36
NG_012772.3:g.87854T>G , LRG_293:g.87854T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*343T>G	ENSP00000434898.2:n.*343T>G
ENST00000528762.2:c.*1187T>G	ENSP00000433168.2:n.*1187T>G
ENST00000530893.7:c.9451T>G	ENSP00000499438.2:p.Leu3151Val
ENST00000665585.2:c.*1382T>G	ENSP00000499570.2:n.*1382T>G
ENST00000700202.2:c.9769T>G	ENSP00000514856.2:p.Leu3257Val
ENST00000700202.1:c.2236T>G	ENSP00000514856.1:p.Leu746Val
ENST00000700203.1:n.1947T>G
ENST00000380152.8:c.9820T>G MANE Select	ENSP00000369497.3:p.Leu3274Val
ENST00000544455.6:c.9820T>G	ENSP00000439902.1:p.Leu3274Val
ENST00000614259.2:c.9828T>G	ENSP00000506251.1:n.9828T>G
ENST00000680887.1:c.9820T>G	ENSP00000505508.1:p.Leu3274Val
ENST00000380152.7:c.9820T>G	ENSP00000369497.3:p.Leu3274Val
ENST00000533776.1:n.408T>G
ENST00000544455.5:c.9820T>G	ENSP00000439902.1:p.Leu3274Val
NM_000059.3:c.9820T>G , LRG_293t1:c.9820T>G	NP_000050.2:p.Leu3274Val
XM_011535203.1:c.9820T>G	XP_011533505.1:p.Leu3274Val
XM_011535204.1:c.9724T>G	XP_011533506.1:p.Leu3242Val
NM_000059.4:c.9820T>G MANE Select	NP_000050.3:p.Leu3274Val