Canonical Allele Identifier: CA387765593

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 1717422
• ClinVar RCV Id: RCV002304774
• dbSNP Id: rs1555289942
• COSMIC: COSM946884 ; COSM946885
• MyVariant Identifiers: chr13:g.32972391G>T (hg19) ; chr13:g.32398254G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398254G>T , CM000675.2:g.32398254G>T	GRCh38
NC_000013.10:g.32972391G>T , CM000675.1:g.32972391G>T	GRCh37
NC_000013.9:g.31870391G>T	NCBI36
NG_012772.3:g.87775G>T , LRG_293:g.87775G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*264G>T	ENSP00000434898.2:n.*264G>T
ENST00000528762.2:c.*1108G>T	ENSP00000433168.2:n.*1108G>T
ENST00000530893.7:c.9372G>T	ENSP00000499438.2:p.Gln3124His
ENST00000665585.2:c.*1303G>T	ENSP00000499570.2:n.*1303G>T
ENST00000700202.2:c.9690G>T	ENSP00000514856.2:p.Gln3230His
ENST00000700202.1:c.2157G>T	ENSP00000514856.1:p.Gln719His
ENST00000700203.1:n.1868G>T
ENST00000380152.8:c.9741G>T MANE Select	ENSP00000369497.3:p.Gln3247His
ENST00000544455.6:c.9741G>T	ENSP00000439902.1:p.Gln3247His
ENST00000614259.2:c.9749G>T	ENSP00000506251.1:n.9749G>T
ENST00000680887.1:c.9741G>T	ENSP00000505508.1:p.Gln3247His
ENST00000380152.7:c.9741G>T	ENSP00000369497.3:p.Gln3247His
ENST00000470094.1:c.824G>T
ENST00000533776.1:n.329G>T
ENST00000544455.5:c.9741G>T	ENSP00000439902.1:p.Gln3247His
NM_000059.3:c.9741G>T , LRG_293t1:c.9741G>T	NP_000050.2:p.Gln3247His
XM_011535203.1:c.9741G>T	XP_011533505.1:p.Gln3247His
XM_011535204.1:c.9645G>T	XP_011533506.1:p.Gln3215His
NM_000059.4:c.9741G>T MANE Select	NP_000050.3:p.Gln3247His