Canonical Allele Identifier: CA025595

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 186632
• ClinVar RCV Id: RCV000166258 ; RCV000410501 ; RCV000557286 ; RCV001800499 ; RCV001193883
• dbSNP Id: rs747664806
• ExAC: 13:32944559 G / A
• gnomAD v2: 13-32944559-G-A
• gnomAD v4: 13-32370422-G-A
• MyVariant Identifiers: chr13:g.32944559G>A (hg19) ; chr13:g.32370422G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32370422G>A , CM000675.2:g.32370422G>A	GRCh38
NC_000013.10:g.32944559G>A , CM000675.1:g.32944559G>A	GRCh37
NC_000013.9:g.31842559G>A	NCBI36
NG_012772.3:g.59943G>A , LRG_293:g.59943G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8352G>A	ENSP00000434898.2:p.Arg2784=
ENST00000528762.2:c.8352G>A	ENSP00000433168.2:p.Arg2784=
ENST00000530893.7:c.7983G>A	ENSP00000499438.2:p.Arg2661=
ENST00000665585.2:c.8352G>A	ENSP00000499570.2:p.Arg2784=
ENST00000666593.2:c.8352G>A	ENSP00000499256.2:p.Arg2784=
ENST00000700202.2:c.8352G>A	ENSP00000514856.2:p.Arg2784=
ENST00000700202.1:c.819G>A	ENSP00000514856.1:p.Arg273=
ENST00000380152.8:c.8352G>A MANE Select	ENSP00000369497.3:p.Arg2784=
ENST00000544455.6:c.8352G>A	ENSP00000439902.1:p.Arg2784=
ENST00000614259.2:c.8360G>A	ENSP00000506251.1:n.8360G>A
ENST00000665585.1:c.917G>A
ENST00000680887.1:c.8352G>A	ENSP00000505508.1:p.Arg2784=
ENST00000380152.7:c.8352G>A	ENSP00000369497.3:p.Arg2784=
ENST00000544455.5:c.8352G>A	ENSP00000439902.1:p.Arg2784=
NM_000059.3:c.8352G>A , LRG_293t1:c.8352G>A	NP_000050.2:p.Arg2784=
XM_011535203.1:c.8352G>A	XP_011533505.1:p.Arg2784=
XM_011535204.1:c.8256G>A	XP_011533506.1:p.Arg2752=
XM_011535205.1:c.8352G>A	XP_011533507.1:p.Arg2784=
NM_000059.4:c.8352G>A MANE Select	NP_000050.3:p.Arg2784=