Canonical Allele Identifier: CA483260437

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 2102321
• ClinVar RCV Id: RCV003037659
• gnomAD v4: 13-32356570-A-G
• MyVariant Identifiers: chr13:g.32930707A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32356570A>G , CM000675.2:g.32356570A>G	GRCh38
NC_000013.10:g.32930707A>G , CM000675.1:g.32930707A>G	GRCh37
NC_000013.9:g.31828707A>G	NCBI36
NG_012772.3:g.46091A>G , LRG_293:g.46091A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.7578A>G	ENSP00000434898.2:p.Ala2526=
ENST00000528762.2:c.7578A>G	ENSP00000433168.2:p.Ala2526=
ENST00000530893.7:c.7209A>G	ENSP00000499438.2:p.Ala2403=
ENST00000665585.2:c.7578A>G	ENSP00000499570.2:p.Ala2526=
ENST00000666593.2:c.7578A>G	ENSP00000499256.2:p.Ala2526=
ENST00000700202.2:c.7578A>G	ENSP00000514856.2:p.Ala2526=
ENST00000700202.1:c.45A>G	ENSP00000514856.1:p.Ala15=
ENST00000380152.8:c.7578A>G MANE Select	ENSP00000369497.3:p.Ala2526=
ENST00000544455.6:c.7578A>G	ENSP00000439902.1:p.Ala2526=
ENST00000614259.2:c.7578A>G	ENSP00000506251.1:p.Ala2526=
ENST00000665585.1:c.143A>G
ENST00000680887.1:c.7578A>G	ENSP00000505508.1:p.Ala2526=
ENST00000380152.7:c.7578A>G	ENSP00000369497.3:p.Ala2526=
ENST00000544455.5:c.7578A>G	ENSP00000439902.1:p.Ala2526=
ENST00000614259.1:n.7578A>G
NM_000059.3:c.7578A>G , LRG_293t1:c.7578A>G	NP_000050.2:p.Ala2526=
XM_011535203.1:c.7578A>G	XP_011533505.1:p.Ala2526=
XM_011535204.1:c.7482A>G	XP_011533506.1:p.Ala2494=
XM_011535205.1:c.7578A>G	XP_011533507.1:p.Ala2526=
NM_000059.4:c.7578A>G MANE Select	NP_000050.3:p.Ala2526=