Canonical Allele Identifier: CA020981

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 91827
• ClinVar RCV Id: RCV000077735 ; RCV000506258 ; RCV000205650 ; RCV001023225 ; RCV003477481
• dbSNP Id: rs398122787
• gnomAD v2: 13-32900392-T-G
• gnomAD v3: 13-32326255-T-G
• gnomAD v4: 13-32326255-T-G
• MyVariant Identifiers: chr13:g.32900392T>G (hg19) ; chr13:g.32326255T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32326255T>G , CM000675.2:g.32326255T>G	GRCh38
NC_000013.10:g.32900392T>G , CM000675.1:g.32900392T>G	GRCh37
NC_000013.9:g.31798392T>G	NCBI36
NG_012772.3:g.15776T>G , LRG_293:g.15776T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.489T>G	ENSP00000434898.2:p.Ser163Arg
ENST00000528762.2:c.489T>G	ENSP00000433168.2:p.Ser163Arg
ENST00000530893.7:c.120T>G	ENSP00000499438.2:p.Ser40Arg
ENST00000665585.2:c.489T>G	ENSP00000499570.2:p.Ser163Arg
ENST00000666593.2:c.489T>G	ENSP00000499256.2:p.Ser163Arg
ENST00000700202.2:c.489T>G	ENSP00000514856.2:p.Ser163Arg
ENST00000700200.1:n.360T>G
ENST00000700201.1:c.*268T>G	ENSP00000514855.1:n.*268T>G
ENST00000380152.8:c.489T>G MANE Select	ENSP00000369497.3:p.Ser163Arg
ENST00000544455.6:c.489T>G	ENSP00000439902.1:p.Ser163Arg
ENST00000614259.2:c.489T>G	ENSP00000506251.1:p.Ser163Arg
ENST00000680887.1:c.489T>G	ENSP00000505508.1:p.Ser163Arg
ENST00000380152.7:c.489T>G	ENSP00000369497.3:p.Ser163Arg
ENST00000530893.6:n.687T>G
ENST00000544455.5:c.489T>G	ENSP00000439902.1:p.Ser163Arg
ENST00000614259.1:n.489T>G
NM_000059.3:c.489T>G , LRG_293t1:c.489T>G	NP_000050.2:p.Ser163Arg
XM_011535203.1:c.489T>G	XP_011533505.1:p.Ser163Arg
XM_011535204.1:c.489T>G	XP_011533506.1:p.Ser163Arg
XM_011535205.1:c.489T>G	XP_011533507.1:p.Ser163Arg
NM_000059.4:c.489T>G MANE Select	NP_000050.3:p.Ser163Arg