Canonical Allele Identifier: CA387767780

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 818237
• ClinVar RCV Id: RCV001009641 ; RCV001860607
• dbSNP Id: rs1593202201
• gnomAD v4: 13-32398547-C-T
• MyVariant Identifiers: chr13:g.32972684C>T (hg19) ; chr13:g.32398547C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398547C>T , CM000675.2:g.32398547C>T	GRCh38
NC_000013.10:g.32972684C>T , CM000675.1:g.32972684C>T	GRCh37
NC_000013.9:g.31870684C>T	NCBI36
NG_012772.3:g.88068C>T , LRG_293:g.88068C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*557C>T	ENSP00000434898.2:n.*557C>T
ENST00000528762.2:c.*1401C>T	ENSP00000433168.2:n.*1401C>T
ENST00000530893.7:c.9665C>T	ENSP00000499438.2:p.Ala3222Val
ENST00000665585.2:c.*1596C>T	ENSP00000499570.2:n.*1596C>T
ENST00000700202.2:c.9983C>T	ENSP00000514856.2:p.Ala3328Val
ENST00000700202.1:c.2450C>T	ENSP00000514856.1:p.Ala817Val
ENST00000700203.1:n.2161C>T
ENST00000380152.8:c.10034C>T MANE Select	ENSP00000369497.3:p.Ala3345Val
ENST00000544455.6:c.10034C>T	ENSP00000439902.1:p.Ala3345Val
ENST00000614259.2:c.10042C>T	ENSP00000506251.1:n.10042C>T
ENST00000680887.1:c.10034C>T	ENSP00000505508.1:p.Ala3345Val
ENST00000380152.7:c.10034C>T	ENSP00000369497.3:p.Ala3345Val
ENST00000544455.5:c.10034C>T	ENSP00000439902.1:p.Ala3345Val
NM_000059.3:c.10034C>T , LRG_293t1:c.10034C>T	NP_000050.2:p.Ala3345Val
XM_011535203.1:c.10034C>T	XP_011533505.1:p.Ala3345Val
XM_011535204.1:c.9938C>T	XP_011533506.1:p.Ala3313Val
NM_000059.4:c.10034C>T MANE Select	NP_000050.3:p.Ala3345Val