Canonical Allele Identifier: CA011150

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 187296
• ClinVar RCV Id: RCV000167014 ; RCV000637700 ; RCV001356441 ; RCV001280619 ; RCV002250581
• dbSNP Id: rs587782137
• ExAC: 13:32890608 G / C
• gnomAD v2: 13-32890608-G-C
• gnomAD v3: 13-32316471-G-C
• gnomAD v4: 13-32316471-G-C
• MyVariant Identifiers: chr13:g.32890608G>C (hg19) ; chr13:g.32316471G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316471G>C , CM000675.2:g.32316471G>C	GRCh38
NC_000013.10:g.32890608G>C , CM000675.1:g.32890608G>C	GRCh37
NC_000013.9:g.31788608G>C	NCBI36
NG_012772.3:g.5992G>C , LRG_293:g.5992G>C
NG_017006.1:g.484C>G
NG_017006.2:g.3893C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.11G>C	ENSP00000434898.2:p.Gly4Ala
ENST00000528762.2:c.11G>C	ENSP00000433168.2:p.Gly4Ala
ENST00000530893.7:c.-355G>C	ENSP00000499438.2:n.-355G>C
ENST00000665585.2:c.11G>C	ENSP00000499570.2:p.Gly4Ala
ENST00000666593.2:c.11G>C	ENSP00000499256.2:p.Gly4Ala
ENST00000700202.2:c.11G>C	ENSP00000514856.2:p.Gly4Ala
ENST00000700199.1:n.135G>C
ENST00000700200.1:n.135G>C
ENST00000700201.1:c.11G>C	ENSP00000514855.1:p.Gly4Ala
ENST00000380152.8:c.11G>C MANE Select	ENSP00000369497.3:p.Gly4Ala
ENST00000544455.6:c.11G>C	ENSP00000439902.1:p.Gly4Ala
ENST00000614259.2:c.11G>C	ENSP00000506251.1:p.Gly4Ala
ENST00000680887.1:c.11G>C	ENSP00000505508.1:p.Gly4Ala
ENST00000380152.7:c.11G>C	ENSP00000369497.3:p.Gly4Ala
ENST00000530893.6:n.213G>C
ENST00000544455.5:c.11G>C	ENSP00000439902.1:p.Gly4Ala
ENST00000614259.1:n.11G>C
NM_000059.3:c.11G>C , LRG_293t1:c.11G>C	NP_000050.2:p.Gly4Ala
XM_011535203.1:c.11G>C	XP_011533505.1:p.Gly4Ala
XM_011535204.1:c.11G>C	XP_011533506.1:p.Gly4Ala
XM_011535205.1:c.11G>C	XP_011533507.1:p.Gly4Ala
NM_000059.4:c.11G>C MANE Select	NP_000050.3:p.Gly4Ala