Canonical Allele Identifier: CA025995

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52758
• ClinVar RCV Id: RCV000114053 ; RCV000437309 ; RCV000773277 ; RCV001469296
• dbSNP Id: rs81002815
• gnomAD v4: 13-32379993-T-C
• MyVariant Identifiers: chr13:g.32954130T>C (hg19) ; chr13:g.32379993T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379993T>C , CM000675.2:g.32379993T>C	GRCh38
NC_000013.10:g.32954130T>C , CM000675.1:g.32954130T>C	GRCh37
NC_000013.9:g.31852130T>C	NCBI36
NG_012772.3:g.69514T>C , LRG_293:g.69514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9118-14T>C	ENSP00000434898.2:n.9118-14T>C
ENST00000528762.2:c.*485-14T>C	ENSP00000433168.2:n.*485-14T>C
ENST00000530893.7:c.8749-14T>C	ENSP00000499438.2:n.8749-14T>C
ENST00000665585.2:c.*680-14T>C	ENSP00000499570.2:n.*680-14T>C
ENST00000666593.2:c.9118-14T>C	ENSP00000499256.2:n.9118-14T>C
ENST00000700202.2:c.9067-14T>C	ENSP00000514856.2:n.9067-14T>C
ENST00000700202.1:c.1534-14T>C	ENSP00000514856.1:n.1534-14T>C
ENST00000700203.1:n.1245-14T>C
ENST00000380152.8:c.9118-14T>C MANE Select	ENSP00000369497.3:n.9118-14T>C
ENST00000544455.6:c.9118-14T>C	ENSP00000439902.1:n.9118-14T>C
ENST00000614259.2:c.9126-14T>C	ENSP00000506251.1:n.9126-14T>C
ENST00000665585.1:c.1996-14T>C
ENST00000680887.1:c.9118-14T>C	ENSP00000505508.1:n.9118-14T>C
ENST00000380152.7:c.9118-14T>C	ENSP00000369497.3:n.9118-14T>C
ENST00000470094.1:c.75-14T>C
ENST00000544455.5:c.9118-14T>C	ENSP00000439902.1:n.9118-14T>C
NM_000059.3:c.9118-14T>C , LRG_293t1:c.9118-14T>C	NP_000050.2:n.9118-14T>C
XM_011535203.1:c.9118-14T>C	XP_011533505.1:n.9118-14T>C
XM_011535204.1:c.9022-14T>C	XP_011533506.1:n.9022-14T>C
NM_000059.4:c.9118-14T>C MANE Select	NP_000050.3:n.9118-14T>C