Canonical Allele Identifier: CA483440228

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 439023
• ClinVar RCV Id: RCV001786395
• dbSNP Id: rs1555289993
• MyVariant Identifiers: chr13:g.32972538G>A (hg19) ; chr13:g.32398401G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32398401G>A , CM000675.2:g.32398401G>A	GRCh38
NC_000013.10:g.32972538G>A , CM000675.1:g.32972538G>A	GRCh37
NC_000013.9:g.31870538G>A	NCBI36
NG_012772.3:g.87922G>A , LRG_293:g.87922G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.*411G>A	ENSP00000434898.2:n.*411G>A
ENST00000528762.2:c.*1255G>A	ENSP00000433168.2:n.*1255G>A
ENST00000530893.7:c.9519G>A	ENSP00000499438.2:p.Lys3173=
ENST00000665585.2:c.*1450G>A	ENSP00000499570.2:n.*1450G>A
ENST00000700202.2:c.9837G>A	ENSP00000514856.2:p.Lys3279=
ENST00000700202.1:c.2304G>A	ENSP00000514856.1:p.Lys768=
ENST00000700203.1:n.2015G>A
ENST00000380152.8:c.9888G>A MANE Select	ENSP00000369497.3:p.Lys3296=
ENST00000544455.6:c.9888G>A	ENSP00000439902.1:p.Lys3296=
ENST00000614259.2:c.9896G>A	ENSP00000506251.1:n.9896G>A
ENST00000680887.1:c.9888G>A	ENSP00000505508.1:p.Lys3296=
ENST00000380152.7:c.9888G>A	ENSP00000369497.3:p.Lys3296=
ENST00000533776.1:n.476G>A
ENST00000544455.5:c.9888G>A	ENSP00000439902.1:p.Lys3296=
NM_000059.3:c.9888G>A , LRG_293t1:c.9888G>A	NP_000050.2:p.Lys3296=
XM_011535203.1:c.9888G>A	XP_011533505.1:p.Lys3296=
XM_011535204.1:c.9792G>A	XP_011533506.1:p.Lys3264=
NM_000059.4:c.9888G>A MANE Select	NP_000050.3:p.Lys3296=