Canonical Allele Identifier: CA026277

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182267
• ClinVar RCV Id: RCV000160178 ; RCV000166335 ; RCV000530914 ; RCV000781163 ; RCV003998456
• dbSNP Id: rs730881575
• MyVariant Identifiers: chr13:g.32972360G>A (hg19) ; chr13:g.32398223G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398223G>A , CM000675.2:g.32398223G>A	GRCh38
NC_000013.10:g.32972360G>A , CM000675.1:g.32972360G>A	GRCh37
NC_000013.9:g.31870360G>A	NCBI36
NG_012772.3:g.87744G>A , LRG_293:g.87744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*233G>A	ENSP00000434898.2:n.*233G>A
ENST00000528762.2:c.*1077G>A	ENSP00000433168.2:n.*1077G>A
ENST00000530893.7:c.9341G>A	ENSP00000499438.2:p.Arg3114Lys
ENST00000665585.2:c.*1272G>A	ENSP00000499570.2:n.*1272G>A
ENST00000700202.2:c.9659G>A	ENSP00000514856.2:p.Arg3220Lys
ENST00000700202.1:c.2126G>A	ENSP00000514856.1:p.Arg709Lys
ENST00000700203.1:n.1837G>A
ENST00000380152.8:c.9710G>A MANE Select	ENSP00000369497.3:p.Arg3237Lys
ENST00000544455.6:c.9710G>A	ENSP00000439902.1:p.Arg3237Lys
ENST00000614259.2:c.9718G>A	ENSP00000506251.1:n.9718G>A
ENST00000665585.1:c.2588G>A
ENST00000680887.1:c.9710G>A	ENSP00000505508.1:p.Arg3237Lys
ENST00000380152.7:c.9710G>A	ENSP00000369497.3:p.Arg3237Lys
ENST00000470094.1:c.793G>A
ENST00000533776.1:n.298G>A
ENST00000544455.5:c.9710G>A	ENSP00000439902.1:p.Arg3237Lys
NM_000059.3:c.9710G>A , LRG_293t1:c.9710G>A	NP_000050.2:p.Arg3237Lys
XM_011535203.1:c.9710G>A	XP_011533505.1:p.Arg3237Lys
XM_011535204.1:c.9614G>A	XP_011533506.1:p.Arg3205Lys
NM_000059.4:c.9710G>A MANE Select	NP_000050.3:p.Arg3237Lys