Canonical Allele Identifier: CA387761168

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 531208
• ClinVar RCV Id: RCV000637328
• dbSNP Id: rs571971903
• MyVariant Identifiers: chr13:g.32968934C>A (hg19) ; chr13:g.32394797C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394797C>A , CM000675.2:g.32394797C>A	GRCh38
NC_000013.10:g.32968934C>A , CM000675.1:g.32968934C>A	GRCh37
NC_000013.9:g.31866934C>A	NCBI36
NG_012772.3:g.84318C>A , LRG_293:g.84318C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9365C>A	ENSP00000434898.2:p.Ala3122Glu
ENST00000528762.2:c.*732C>A	ENSP00000433168.2:n.*732C>A
ENST00000530893.7:c.8996C>A	ENSP00000499438.2:p.Ala2999Glu
ENST00000665585.2:c.*927C>A	ENSP00000499570.2:n.*927C>A
ENST00000666593.2:c.*210C>A	ENSP00000499256.2:n.*210C>A
ENST00000700202.2:c.9314C>A	ENSP00000514856.2:p.Ala3105Glu
ENST00000700202.1:c.1781C>A	ENSP00000514856.1:p.Ala594Glu
ENST00000700203.1:n.1492C>A
ENST00000380152.8:c.9365C>A MANE Select	ENSP00000369497.3:p.Ala3122Glu
ENST00000544455.6:c.9365C>A	ENSP00000439902.1:p.Ala3122Glu
ENST00000614259.2:c.9373C>A	ENSP00000506251.1:n.9373C>A
ENST00000665585.1:c.2243C>A
ENST00000666593.1:c.387C>A	ENSP00000499256.1:n.387C>A
ENST00000680887.1:c.9365C>A	ENSP00000505508.1:p.Ala3122Glu
ENST00000380152.7:c.9365C>A	ENSP00000369497.3:p.Ala3122Glu
ENST00000470094.1:c.322C>A
ENST00000544455.5:c.9365C>A	ENSP00000439902.1:p.Ala3122Glu
NM_000059.3:c.9365C>A , LRG_293t1:c.9365C>A	NP_000050.2:p.Ala3122Glu
XM_011535203.1:c.9365C>A	XP_011533505.1:p.Ala3122Glu
XM_011535204.1:c.9269C>A	XP_011533506.1:p.Ala3090Glu
NM_000059.4:c.9365C>A MANE Select	NP_000050.3:p.Ala3122Glu