Canonical Allele Identifier: CA025920

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 38201
• ClinVar RCV Id: RCV001353997 ; RCV002247405
• dbSNP Id: rs80359152
• gnomAD v4: 13-32379800-G-A
• MyVariant Identifiers: chr13:g.32953937G>A (hg19) ; chr13:g.32379800G>A (hg38)
• PubMed: PMID:15876480 ; PMID:18284688 ; PMID:19043619 ; PMID:20694749 ; PMID:21947752 ; PMID:22632462 ; PMID:22678057 ; PMID:22771033 ; PMID:23108138 ; PMID:23704879 ; PMID:24123850 ; PMID:25085752 ; PMID:25348012 ; PMID:25628955 ; PMID:25884701 ; PMID:26137147 ; PMID:27223485 ; PMID:27553368

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379800G>A , CM000675.2:g.32379800G>A	GRCh38
NC_000013.10:g.32953937G>A , CM000675.1:g.32953937G>A	GRCh37
NC_000013.9:g.31851937G>A	NCBI36
NG_012772.3:g.69321G>A , LRG_293:g.69321G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000470094.2:c.9004G>A	ENSP00000434898.2:p.Glu3002Lys
ENST00000528762.2:c.*371G>A	ENSP00000433168.2:n.*371G>A
ENST00000530893.7:c.8635G>A	ENSP00000499438.2:p.Glu2879Lys
ENST00000665585.2:c.*566G>A	ENSP00000499570.2:n.*566G>A
ENST00000666593.2:c.9004G>A	ENSP00000499256.2:p.Glu3002Lys
ENST00000700202.2:c.8954-1G>A	ENSP00000514856.2:n.8954-1G>A
ENST00000700202.1:c.1421-1G>A	ENSP00000514856.1:n.1421-1G>A
ENST00000700203.1:n.1131G>A
ENST00000380152.8:c.9004G>A MANE Select	ENSP00000369497.3:p.Glu3002Lys
ENST00000544455.6:c.9004G>A	ENSP00000439902.1:p.Glu3002Lys
ENST00000614259.2:c.9012G>A	ENSP00000506251.1:n.9012G>A
ENST00000665585.1:c.1882G>A
ENST00000680887.1:c.9004G>A	ENSP00000505508.1:p.Glu3002Lys
ENST00000380152.7:c.9004G>A	ENSP00000369497.3:p.Glu3002Lys
ENST00000544455.5:c.9004G>A	ENSP00000439902.1:p.Glu3002Lys
NM_000059.3:c.9004G>A , LRG_293t1:c.9004G>A	NP_000050.2:p.Glu3002Lys
XM_011535203.1:c.9004G>A	XP_011533505.1:p.Glu3002Lys
XM_011535204.1:c.8908G>A	XP_011533506.1:p.Glu2970Lys
XM_011535205.1:c.*42G>A	XP_011533507.1:n.*42G>A
NM_000059.4:c.9004G>A MANE Select	NP_000050.3:p.Glu3002Lys