Canonical Allele Identifier: CA026120

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52823
• ClinVar RCV Id: RCV000114098 ; RCV001290188 ; RCV003584524
• dbSNP Id: rs80359209
• MyVariant Identifiers: chr13:g.32968943T>A (hg19) ; chr13:g.32394806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394806T>A , CM000675.2:g.32394806T>A	GRCh38
NC_000013.10:g.32968943T>A , CM000675.1:g.32968943T>A	GRCh37
NC_000013.9:g.31866943T>A	NCBI36
NG_012772.3:g.84327T>A , LRG_293:g.84327T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9374T>A	ENSP00000434898.2:p.Leu3125His
ENST00000528762.2:c.*741T>A	ENSP00000433168.2:n.*741T>A
ENST00000530893.7:c.9005T>A	ENSP00000499438.2:p.Leu3002His
ENST00000665585.2:c.*936T>A	ENSP00000499570.2:n.*936T>A
ENST00000666593.2:c.*219T>A	ENSP00000499256.2:n.*219T>A
ENST00000700202.2:c.9323T>A	ENSP00000514856.2:p.Leu3108His
ENST00000700202.1:c.1790T>A	ENSP00000514856.1:p.Leu597His
ENST00000700203.1:n.1501T>A
ENST00000380152.8:c.9374T>A MANE Select	ENSP00000369497.3:p.Leu3125His
ENST00000544455.6:c.9374T>A	ENSP00000439902.1:p.Leu3125His
ENST00000614259.2:c.9382T>A	ENSP00000506251.1:n.9382T>A
ENST00000665585.1:c.2252T>A
ENST00000666593.1:c.396T>A	ENSP00000499256.1:n.396T>A
ENST00000680887.1:c.9374T>A	ENSP00000505508.1:p.Leu3125His
ENST00000380152.7:c.9374T>A	ENSP00000369497.3:p.Leu3125His
ENST00000470094.1:c.331T>A
ENST00000544455.5:c.9374T>A	ENSP00000439902.1:p.Leu3125His
NM_000059.3:c.9374T>A , LRG_293t1:c.9374T>A	NP_000050.2:p.Leu3125His
XM_011535203.1:c.9374T>A	XP_011533505.1:p.Leu3125His
XM_011535204.1:c.9278T>A	XP_011533506.1:p.Leu3093His
NM_000059.4:c.9374T>A MANE Select	NP_000050.3:p.Leu3125His