Canonical Allele Identifier: CA6941458

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 254637
• ClinVar RCV Id: RCV000241160 ; RCV001019921
• dbSNP Id: rs758051959
• ExAC: 13:32972596 G / T
• gnomAD v2: 13-32972596-G-T
• gnomAD v4: 13-32398459-G-T
• MyVariant Identifiers: chr13:g.32972596G>T (hg19) ; chr13:g.32398459G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398459G>T , CM000675.2:g.32398459G>T	GRCh38
NC_000013.10:g.32972596G>T , CM000675.1:g.32972596G>T	GRCh37
NC_000013.9:g.31870596G>T	NCBI36
NG_012772.3:g.87980G>T , LRG_293:g.87980G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*469G>T	ENSP00000434898.2:n.*469G>T
ENST00000528762.2:c.*1313G>T	ENSP00000433168.2:n.*1313G>T
ENST00000530893.7:c.9577G>T	ENSP00000499438.2:p.Glu3193Ter
ENST00000665585.2:c.*1508G>T	ENSP00000499570.2:n.*1508G>T
ENST00000700202.2:c.9895G>T	ENSP00000514856.2:p.Glu3299Ter
ENST00000700202.1:c.2362G>T	ENSP00000514856.1:p.Glu788Ter
ENST00000700203.1:n.2073G>T
ENST00000380152.8:c.9946G>T MANE Select	ENSP00000369497.3:p.Glu3316Ter
ENST00000544455.6:c.9946G>T	ENSP00000439902.1:p.Glu3316Ter
ENST00000614259.2:c.9954G>T	ENSP00000506251.1:n.9954G>T
ENST00000680887.1:c.9946G>T	ENSP00000505508.1:p.Glu3316Ter
ENST00000380152.7:c.9946G>T	ENSP00000369497.3:p.Glu3316Ter
ENST00000544455.5:c.9946G>T	ENSP00000439902.1:p.Glu3316Ter
NM_000059.3:c.9946G>T , LRG_293t1:c.9946G>T	NP_000050.2:p.Glu3316Ter
XM_011535203.1:c.9946G>T	XP_011533505.1:p.Glu3316Ter
XM_011535204.1:c.9850G>T	XP_011533506.1:p.Glu3284Ter
NM_000059.4:c.9946G>T MANE Select	NP_000050.3:p.Glu3316Ter