Canonical Allele Identifier: CA483271637

Gene: BRCA2

Linked Data

• dbSNP Id: rs876660551
• MyVariant Identifiers: chr13:g.32971083C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32396946C>T , CM000675.2:g.32396946C>T	GRCh38
NC_000013.10:g.32971083C>T , CM000675.1:g.32971083C>T	GRCh37
NC_000013.9:g.31869083C>T	NCBI36
NG_012772.3:g.86467C>T , LRG_293:g.86467C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.*73C>T	ENSP00000434898.2:n.*73C>T
ENST00000528762.2:c.*917C>T	ENSP00000433168.2:n.*917C>T
ENST00000530893.7:c.9181C>T	ENSP00000499438.2:p.Leu3061=
ENST00000665585.2:c.*1112C>T	ENSP00000499570.2:n.*1112C>T
ENST00000700202.2:c.9499C>T	ENSP00000514856.2:p.Leu3167=
ENST00000700202.1:c.1966C>T	ENSP00000514856.1:p.Leu656=
ENST00000700203.1:n.1677C>T
ENST00000380152.8:c.9550C>T MANE Select	ENSP00000369497.3:p.Leu3184=
ENST00000544455.6:c.9550C>T	ENSP00000439902.1:p.Leu3184=
ENST00000614259.2:c.9558C>T	ENSP00000506251.1:n.9558C>T
ENST00000665585.1:c.2428C>T
ENST00000680887.1:c.9550C>T	ENSP00000505508.1:p.Leu3184=
ENST00000380152.7:c.9550C>T	ENSP00000369497.3:p.Leu3184=
ENST00000470094.1:c.633C>T
ENST00000533776.1:n.138C>T
ENST00000544455.5:c.9550C>T	ENSP00000439902.1:p.Leu3184=
NM_000059.3:c.9550C>T , LRG_293t1:c.9550C>T	NP_000050.2:p.Leu3184=
XM_011535203.1:c.9550C>T	XP_011533505.1:p.Leu3184=
XM_011535204.1:c.9454C>T	XP_011533506.1:p.Leu3152=
NM_000059.4:c.9550C>T MANE Select	NP_000050.3:p.Leu3184=