Canonical Allele Identifier: CA387761238

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 483051
• ClinVar RCV Id: RCV000562173 ; RCV001045140 ; RCV003459346
• dbSNP Id: rs397507426
• MyVariant Identifiers: chr13:g.32968946A>C (hg19) ; chr13:g.32394809A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394809A>C , CM000675.2:g.32394809A>C	GRCh38
NC_000013.10:g.32968946A>C , CM000675.1:g.32968946A>C	GRCh37
NC_000013.9:g.31866946A>C	NCBI36
NG_012772.3:g.84330A>C , LRG_293:g.84330A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9377A>C	ENSP00000434898.2:p.Gln3126Pro
ENST00000528762.2:c.*744A>C	ENSP00000433168.2:n.*744A>C
ENST00000530893.7:c.9008A>C	ENSP00000499438.2:p.Gln3003Pro
ENST00000665585.2:c.*939A>C	ENSP00000499570.2:n.*939A>C
ENST00000666593.2:c.*222A>C	ENSP00000499256.2:n.*222A>C
ENST00000700202.2:c.9326A>C	ENSP00000514856.2:p.Gln3109Pro
ENST00000700202.1:c.1793A>C	ENSP00000514856.1:p.Gln598Pro
ENST00000700203.1:n.1504A>C
ENST00000380152.8:c.9377A>C MANE Select	ENSP00000369497.3:p.Gln3126Pro
ENST00000544455.6:c.9377A>C	ENSP00000439902.1:p.Gln3126Pro
ENST00000614259.2:c.9385A>C	ENSP00000506251.1:n.9385A>C
ENST00000665585.1:c.2255A>C
ENST00000666593.1:c.399A>C	ENSP00000499256.1:n.399A>C
ENST00000680887.1:c.9377A>C	ENSP00000505508.1:p.Gln3126Pro
ENST00000380152.7:c.9377A>C	ENSP00000369497.3:p.Gln3126Pro
ENST00000470094.1:c.334A>C
ENST00000544455.5:c.9377A>C	ENSP00000439902.1:p.Gln3126Pro
NM_000059.3:c.9377A>C , LRG_293t1:c.9377A>C	NP_000050.2:p.Gln3126Pro
XM_011535203.1:c.9377A>C	XP_011533505.1:p.Gln3126Pro
XM_011535204.1:c.9281A>C	XP_011533506.1:p.Gln3094Pro
NM_000059.4:c.9377A>C MANE Select	NP_000050.3:p.Gln3126Pro