Canonical Allele Identifier: CA483271019

Gene: BRCA2

Linked Data

• dbSNP Id: rs2137652348
• MyVariant Identifiers: chr13:g.32968869A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32394732A>G , CM000675.2:g.32394732A>G	GRCh38
NC_000013.10:g.32968869A>G , CM000675.1:g.32968869A>G	GRCh37
NC_000013.9:g.31866869A>G	NCBI36
NG_012772.3:g.84253A>G , LRG_293:g.84253A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.9300A>G	ENSP00000434898.2:p.Leu3100=
ENST00000528762.2:c.*667A>G	ENSP00000433168.2:n.*667A>G
ENST00000530893.7:c.8931A>G	ENSP00000499438.2:p.Leu2977=
ENST00000665585.2:c.*862A>G	ENSP00000499570.2:n.*862A>G
ENST00000666593.2:c.*145A>G	ENSP00000499256.2:n.*145A>G
ENST00000700202.2:c.9249A>G	ENSP00000514856.2:p.Leu3083=
ENST00000700202.1:c.1716A>G	ENSP00000514856.1:p.Leu572=
ENST00000700203.1:n.1427A>G
ENST00000380152.8:c.9300A>G MANE Select	ENSP00000369497.3:p.Leu3100=
ENST00000544455.6:c.9300A>G	ENSP00000439902.1:p.Leu3100=
ENST00000614259.2:c.9308A>G	ENSP00000506251.1:n.9308A>G
ENST00000665585.1:c.2178A>G
ENST00000666593.1:c.322A>G	ENSP00000499256.1:n.322A>G
ENST00000680887.1:c.9300A>G	ENSP00000505508.1:p.Leu3100=
ENST00000380152.7:c.9300A>G	ENSP00000369497.3:p.Leu3100=
ENST00000470094.1:c.257A>G
ENST00000544455.5:c.9300A>G	ENSP00000439902.1:p.Leu3100=
NM_000059.3:c.9300A>G , LRG_293t1:c.9300A>G	NP_000050.2:p.Leu3100=
XM_011535203.1:c.9300A>G	XP_011533505.1:p.Leu3100=
XM_011535204.1:c.9204A>G	XP_011533506.1:p.Leu3068=
NM_000059.4:c.9300A>G MANE Select	NP_000050.3:p.Leu3100=