Canonical Allele Identifier: CA025882

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 52705
• ClinVar RCV Id: RCV000045662 ; RCV000114017 ; RCV000708685 ; RCV000985613 ; RCV001818223
• dbSNP Id: rs80359145
• ExAC: 13:32953643 A / C
• gnomAD v2: 13-32953643-A-C
• gnomAD v3: 13-32379506-A-C
• gnomAD v4: 13-32379506-A-C
• MyVariant Identifiers: chr13:g.32953643A>C (hg19) ; chr13:g.32379506A>C (hg38)
• PubMed: PMID:10923033

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32379506A>C , CM000675.2:g.32379506A>C	GRCh38
NC_000013.10:g.32953643A>C , CM000675.1:g.32953643A>C	GRCh37
NC_000013.9:g.31851643A>C	NCBI36
NG_012772.3:g.69027A>C , LRG_293:g.69027A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.8944A>C	ENSP00000434898.2:p.Lys2982Gln
ENST00000528762.2:c.*311A>C	ENSP00000433168.2:n.*311A>C
ENST00000530893.7:c.8575A>C	ENSP00000499438.2:p.Lys2859Gln
ENST00000665585.2:c.*506A>C	ENSP00000499570.2:n.*506A>C
ENST00000666593.2:c.8944A>C	ENSP00000499256.2:p.Lys2982Gln
ENST00000700202.2:c.8944A>C	ENSP00000514856.2:p.Lys2982Gln
ENST00000700202.1:c.1411A>C	ENSP00000514856.1:p.Lys471Gln
ENST00000700203.1:n.1071A>C
ENST00000380152.8:c.8944A>C MANE Select	ENSP00000369497.3:p.Lys2982Gln
ENST00000544455.6:c.8944A>C	ENSP00000439902.1:p.Lys2982Gln
ENST00000614259.2:c.8952A>C	ENSP00000506251.1:n.8952A>C
ENST00000665585.1:c.1822A>C
ENST00000680887.1:c.8944A>C	ENSP00000505508.1:p.Lys2982Gln
ENST00000380152.7:c.8944A>C	ENSP00000369497.3:p.Lys2982Gln
ENST00000544455.5:c.8944A>C	ENSP00000439902.1:p.Lys2982Gln
NM_000059.3:c.8944A>C , LRG_293t1:c.8944A>C	NP_000050.2:p.Lys2982Gln
XM_011535203.1:c.8944A>C	XP_011533505.1:p.Lys2982Gln
XM_011535204.1:c.8848A>C	XP_011533506.1:p.Lys2950Gln
XM_011535205.1:c.8755-244A>C	XP_011533507.1:n.8755-244A>C
NM_000059.4:c.8944A>C MANE Select	NP_000050.3:p.Lys2982Gln