Canonical Allele Identifier: CA017013

Gene: BRCA2

Linked Data - Expert Curation

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32316462T>G , CM000675.2:g.32316462T>G	GRCh38
NC_000013.10:g.32890599T>G , CM000675.1:g.32890599T>G	GRCh37
NC_000013.9:g.31788599T>G	NCBI36
NG_012772.3:g.5983T>G , LRG_293:g.5983T>G
NG_017006.1:g.493A>C
NG_017006.2:g.3902A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.2T>G	ENSP00000434898.2:p.Met1Arg
ENST00000528762.2:c.2T>G	ENSP00000433168.2:p.Met1Arg
ENST00000530893.7:c.-364T>G	ENSP00000499438.2:n.-364T>G
ENST00000665585.2:c.2T>G	ENSP00000499570.2:p.Met1Arg
ENST00000666593.2:c.2T>G	ENSP00000499256.2:p.Met1Arg
ENST00000700202.2:c.2T>G	ENSP00000514856.2:p.Met1Arg
ENST00000700199.1:n.126T>G
ENST00000700200.1:n.126T>G
ENST00000700201.1:c.2T>G	ENSP00000514855.1:p.Met1Arg
ENST00000380152.8:c.2T>G MANE Select	ENSP00000369497.3:p.Met1Arg
ENST00000544455.6:c.2T>G	ENSP00000439902.1:p.Met1Arg
ENST00000614259.2:c.2T>G	ENSP00000506251.1:p.Met1Arg
ENST00000680887.1:c.2T>G	ENSP00000505508.1:p.Met1Arg
ENST00000380152.7:c.2T>G	ENSP00000369497.3:p.Met1Arg
ENST00000530893.6:n.204T>G
ENST00000544455.5:c.2T>G	ENSP00000439902.1:p.Met1Arg
ENST00000614259.1:n.2T>G
NM_000059.3:c.2T>G , LRG_293t1:c.2T>G	NP_000050.2:p.Met1Arg
XM_011535203.1:c.2T>G	XP_011533505.1:p.Met1Arg
XM_011535204.1:c.2T>G	XP_011533506.1:p.Met1Arg
XM_011535205.1:c.2T>G	XP_011533507.1:p.Met1Arg
NM_000059.4:c.2T>G MANE Select	NP_000050.3:p.Met1Arg