Canonical Allele Identifier: CA387763360

Gene: BRCA2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396968G>C , CM000675.2:g.32396968G>C	GRCh38
NC_000013.10:g.32971105G>C , CM000675.1:g.32971105G>C	GRCh37
NC_000013.9:g.31869105G>C	NCBI36
NG_012772.3:g.86489G>C , LRG_293:g.86489G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*95G>C	ENSP00000434898.2:n.*95G>C
ENST00000528762.2:c.*939G>C	ENSP00000433168.2:n.*939G>C
ENST00000530893.7:c.9203G>C	ENSP00000499438.2:p.Trp3068Ser
ENST00000665585.2:c.*1134G>C	ENSP00000499570.2:n.*1134G>C
ENST00000700202.2:c.9521G>C	ENSP00000514856.2:p.Trp3174Ser
ENST00000700202.1:c.1988G>C	ENSP00000514856.1:p.Trp663Ser
ENST00000700203.1:n.1699G>C
ENST00000380152.8:c.9572G>C MANE Select	ENSP00000369497.3:p.Trp3191Ser
ENST00000544455.6:c.9572G>C	ENSP00000439902.1:p.Trp3191Ser
ENST00000614259.2:c.9580G>C	ENSP00000506251.1:n.9580G>C
ENST00000665585.1:c.2450G>C
ENST00000680887.1:c.9572G>C	ENSP00000505508.1:p.Trp3191Ser
ENST00000380152.7:c.9572G>C	ENSP00000369497.3:p.Trp3191Ser
ENST00000470094.1:c.655G>C
ENST00000533776.1:n.160G>C
ENST00000544455.5:c.9572G>C	ENSP00000439902.1:p.Trp3191Ser
NM_000059.3:c.9572G>C , LRG_293t1:c.9572G>C	NP_000050.2:p.Trp3191Ser
XM_011535203.1:c.9572G>C	XP_011533505.1:p.Trp3191Ser
XM_011535204.1:c.9476G>C	XP_011533506.1:p.Trp3159Ser
NM_000059.4:c.9572G>C MANE Select	NP_000050.3:p.Trp3191Ser