Canonical Allele Identifier: CA483271011

Gene: BRCA2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394726C>T , CM000675.2:g.32394726C>T	GRCh38
NC_000013.10:g.32968863C>T , CM000675.1:g.32968863C>T	GRCh37
NC_000013.9:g.31866863C>T	NCBI36
NG_012772.3:g.84247C>T , LRG_293:g.84247C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9294C>T	ENSP00000434898.2:p.Tyr3098=
ENST00000528762.2:c.*661C>T	ENSP00000433168.2:n.*661C>T
ENST00000530893.7:c.8925C>T	ENSP00000499438.2:p.Tyr2975=
ENST00000665585.2:c.*856C>T	ENSP00000499570.2:n.*856C>T
ENST00000666593.2:c.*139C>T	ENSP00000499256.2:n.*139C>T
ENST00000700202.2:c.9243C>T	ENSP00000514856.2:p.Tyr3081=
ENST00000700202.1:c.1710C>T	ENSP00000514856.1:p.Tyr570=
ENST00000700203.1:n.1421C>T
ENST00000380152.8:c.9294C>T MANE Select	ENSP00000369497.3:p.Tyr3098=
ENST00000544455.6:c.9294C>T	ENSP00000439902.1:p.Tyr3098=
ENST00000614259.2:c.9302C>T	ENSP00000506251.1:n.9302C>T
ENST00000665585.1:c.2172C>T
ENST00000666593.1:c.316C>T	ENSP00000499256.1:n.316C>T
ENST00000680887.1:c.9294C>T	ENSP00000505508.1:p.Tyr3098=
ENST00000380152.7:c.9294C>T	ENSP00000369497.3:p.Tyr3098=
ENST00000470094.1:c.251C>T
ENST00000544455.5:c.9294C>T	ENSP00000439902.1:p.Tyr3098=
NM_000059.3:c.9294C>T , LRG_293t1:c.9294C>T	NP_000050.2:p.Tyr3098=
XM_011535203.1:c.9294C>T	XP_011533505.1:p.Tyr3098=
XM_011535204.1:c.9198C>T	XP_011533506.1:p.Tyr3066=
NM_000059.4:c.9294C>T MANE Select	NP_000050.3:p.Tyr3098=