Canonical Allele Identifier: CA016605

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 182192
• ClinVar RCV Id: RCV000570238 ; RCV000542950 ; RCV000662673 ; RCV000781051
• dbSNP Id: rs730881517
• gnomAD v4: 13-32337198-T-C
• MyVariant Identifiers: chr13:g.32911335T>C (hg19) ; chr13:g.32337198T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32337198T>C , CM000675.2:g.32337198T>C	GRCh38
NC_000013.10:g.32911335T>C , CM000675.1:g.32911335T>C	GRCh37
NC_000013.9:g.31809335T>C	NCBI36
NG_012772.3:g.26719T>C , LRG_293:g.26719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2843T>C	ENSP00000434898.2:p.Val948Ala
ENST00000528762.2:c.2843T>C	ENSP00000433168.2:p.Val948Ala
ENST00000530893.7:c.2474T>C	ENSP00000499438.2:p.Val825Ala
ENST00000665585.2:c.2843T>C	ENSP00000499570.2:p.Val948Ala
ENST00000666593.2:c.2843T>C	ENSP00000499256.2:p.Val948Ala
ENST00000700202.2:c.2843T>C	ENSP00000514856.2:p.Val948Ala
ENST00000380152.8:c.2843T>C MANE Select	ENSP00000369497.3:p.Val948Ala
ENST00000544455.6:c.2843T>C	ENSP00000439902.1:p.Val948Ala
ENST00000614259.2:c.2843T>C	ENSP00000506251.1:p.Val948Ala
ENST00000680887.1:c.2843T>C	ENSP00000505508.1:p.Val948Ala
ENST00000380152.7:c.2843T>C	ENSP00000369497.3:p.Val948Ala
ENST00000544455.5:c.2843T>C	ENSP00000439902.1:p.Val948Ala
ENST00000614259.1:n.2843T>C
NM_000059.3:c.2843T>C , LRG_293t1:c.2843T>C	NP_000050.2:p.Val948Ala
XM_011535203.1:c.2843T>C	XP_011533505.1:p.Val948Ala
XM_011535204.1:c.2843T>C	XP_011533506.1:p.Val948Ala
XM_011535205.1:c.2843T>C	XP_011533507.1:p.Val948Ala
NM_000059.4:c.2843T>C MANE Select	NP_000050.3:p.Val948Ala