Canonical Allele Identifier: CA010516

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 41539
• ClinVar RCV Id: RCV000034425 ; RCV000083084 ; RCV000164099 ; RCV001089032
• dbSNP Id: rs80358403
• gnomAD v2: 13-32906637-G-T
• gnomAD v4: 13-32332500-G-T
• COSMIC: COSM6333155 ; COSM6333156
• MyVariant Identifiers: chr13:g.32906637G>T (hg19) ; chr13:g.32332500G>T (hg38)
• PubMed: PMID:10923033 ; PMID:22703879

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32332500G>T , CM000675.2:g.32332500G>T	GRCh38
NC_000013.10:g.32906637G>T , CM000675.1:g.32906637G>T	GRCh37
NC_000013.9:g.31804637G>T	NCBI36
NG_012772.3:g.22021G>T , LRG_293:g.22021G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.1022G>T	ENSP00000434898.2:p.Cys341Phe
ENST00000528762.2:c.1022G>T	ENSP00000433168.2:p.Cys341Phe
ENST00000530893.7:c.653G>T	ENSP00000499438.2:p.Cys218Phe
ENST00000665585.2:c.1022G>T	ENSP00000499570.2:p.Cys341Phe
ENST00000666593.2:c.1022G>T	ENSP00000499256.2:p.Cys341Phe
ENST00000700202.2:c.1022G>T	ENSP00000514856.2:p.Cys341Phe
ENST00000700201.1:c.*801G>T	ENSP00000514855.1:n.*801G>T
ENST00000380152.8:c.1022G>T MANE Select	ENSP00000369497.3:p.Cys341Phe
ENST00000544455.6:c.1022G>T	ENSP00000439902.1:p.Cys341Phe
ENST00000614259.2:c.1022G>T	ENSP00000506251.1:p.Cys341Phe
ENST00000680887.1:c.1022G>T	ENSP00000505508.1:p.Cys341Phe
ENST00000380152.7:c.1022G>T	ENSP00000369497.3:p.Cys341Phe
ENST00000530893.6:n.1220G>T
ENST00000544455.5:c.1022G>T	ENSP00000439902.1:p.Cys341Phe
ENST00000614259.1:n.1022G>T
NM_000059.3:c.1022G>T , LRG_293t1:c.1022G>T	NP_000050.2:p.Cys341Phe
XM_011535203.1:c.1022G>T	XP_011533505.1:p.Cys341Phe
XM_011535204.1:c.1022G>T	XP_011533506.1:p.Cys341Phe
XM_011535205.1:c.1022G>T	XP_011533507.1:p.Cys341Phe
NM_000059.4:c.1022G>T MANE Select	NP_000050.3:p.Cys341Phe