Canonical Allele Identifier: CA387756517

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 630026
• ClinVar RCV Id: RCV000774894 ; RCV001361373 ; RCV003234789
• dbSNP Id: rs767481384
• gnomAD v4: 13-32379456-A-T
• MyVariant Identifiers: chr13:g.32953593A>T (hg19) ; chr13:g.32379456A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379456A>T , CM000675.2:g.32379456A>T	GRCh38
NC_000013.10:g.32953593A>T , CM000675.1:g.32953593A>T	GRCh37
NC_000013.9:g.31851593A>T	NCBI36
NG_012772.3:g.68977A>T , LRG_293:g.68977A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8894A>T	ENSP00000434898.2:p.Asp2965Val
ENST00000528762.2:c.*261A>T	ENSP00000433168.2:n.*261A>T
ENST00000530893.7:c.8525A>T	ENSP00000499438.2:p.Asp2842Val
ENST00000665585.2:c.*456A>T	ENSP00000499570.2:n.*456A>T
ENST00000666593.2:c.8894A>T	ENSP00000499256.2:p.Asp2965Val
ENST00000700202.2:c.8894A>T	ENSP00000514856.2:p.Asp2965Val
ENST00000700202.1:c.1361A>T	ENSP00000514856.1:p.Asp454Val
ENST00000700203.1:n.1021A>T
ENST00000380152.8:c.8894A>T MANE Select	ENSP00000369497.3:p.Asp2965Val
ENST00000544455.6:c.8894A>T	ENSP00000439902.1:p.Asp2965Val
ENST00000614259.2:c.8902A>T	ENSP00000506251.1:n.8902A>T
ENST00000665585.1:c.1772A>T
ENST00000680887.1:c.8894A>T	ENSP00000505508.1:p.Asp2965Val
ENST00000380152.7:c.8894A>T	ENSP00000369497.3:p.Asp2965Val
ENST00000528762.1:c.456A>T	ENSP00000433168.1:n.456A>T
ENST00000544455.5:c.8894A>T	ENSP00000439902.1:p.Asp2965Val
NM_000059.3:c.8894A>T , LRG_293t1:c.8894A>T	NP_000050.2:p.Asp2965Val
XM_011535203.1:c.8894A>T	XP_011533505.1:p.Asp2965Val
XM_011535204.1:c.8798A>T	XP_011533506.1:p.Asp2933Val
XM_011535205.1:c.8755-294A>T	XP_011533507.1:n.8755-294A>T
NM_000059.4:c.8894A>T MANE Select	NP_000050.3:p.Asp2965Val