Canonical Allele Identifier: CA6941300

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 234098
• ClinVar RCV Id: RCV000223494 ; RCV000637645 ; RCV001528588 ; RCV003475038
• dbSNP Id: rs553440338
• ExAC: 13:32953497 G / C
• gnomAD v2: 13-32953497-G-C
• gnomAD v3: 13-32379360-G-C
• gnomAD v4: 13-32379360-G-C
• MyVariant Identifiers: chr13:g.32953497G>C (hg19) ; chr13:g.32379360G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379360G>C , CM000675.2:g.32379360G>C	GRCh38
NC_000013.10:g.32953497G>C , CM000675.1:g.32953497G>C	GRCh37
NC_000013.9:g.31851497G>C	NCBI36
NG_012772.3:g.68881G>C , LRG_293:g.68881G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8798G>C	ENSP00000434898.2:p.Arg2933Thr
ENST00000528762.2:c.*165G>C	ENSP00000433168.2:n.*165G>C
ENST00000530893.7:c.8429G>C	ENSP00000499438.2:p.Arg2810Thr
ENST00000665585.2:c.*360G>C	ENSP00000499570.2:n.*360G>C
ENST00000666593.2:c.8798G>C	ENSP00000499256.2:p.Arg2933Thr
ENST00000700202.2:c.8798G>C	ENSP00000514856.2:p.Arg2933Thr
ENST00000700202.1:c.1265G>C	ENSP00000514856.1:p.Arg422Thr
ENST00000700203.1:n.925G>C
ENST00000380152.8:c.8798G>C MANE Select	ENSP00000369497.3:p.Arg2933Thr
ENST00000544455.6:c.8798G>C	ENSP00000439902.1:p.Arg2933Thr
ENST00000614259.2:c.8806G>C	ENSP00000506251.1:n.8806G>C
ENST00000665585.1:c.1676G>C
ENST00000680887.1:c.8798G>C	ENSP00000505508.1:p.Arg2933Thr
ENST00000380152.7:c.8798G>C	ENSP00000369497.3:p.Arg2933Thr
ENST00000528762.1:c.360G>C	ENSP00000433168.1:n.360G>C
ENST00000544455.5:c.8798G>C	ENSP00000439902.1:p.Arg2933Thr
NM_000059.3:c.8798G>C , LRG_293t1:c.8798G>C	NP_000050.2:p.Arg2933Thr
XM_011535203.1:c.8798G>C	XP_011533505.1:p.Arg2933Thr
XM_011535204.1:c.8702G>C	XP_011533506.1:p.Arg2901Thr
XM_011535205.1:c.8755-390G>C	XP_011533507.1:n.8755-390G>C
NM_000059.4:c.8798G>C MANE Select	NP_000050.3:p.Arg2933Thr