Canonical Allele Identifier: CA387752861

Gene: BRCA2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32371059C>G , CM000675.2:g.32371059C>G	GRCh38
NC_000013.10:g.32945196C>G , CM000675.1:g.32945196C>G	GRCh37
NC_000013.9:g.31843196C>G	NCBI36
NG_012772.3:g.60580C>G , LRG_293:g.60580C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000059.4:c.8591C>G MANE Select	NP_000050.3:p.Ala2864Gly
ENST00000380152.8:c.8591C>G MANE Select	ENSP00000369497.3:p.Ala2864Gly
NM_000059.3:c.8591C>G , LRG_293t1:c.8591C>G	NP_000050.2:p.Ala2864Gly
ENST00000380152.7:c.8591C>G	ENSP00000369497.3:p.Ala2864Gly
ENST00000470094.2:c.8591C>G	ENSP00000434898.2:p.Ala2864Gly
ENST00000528762.1:c.89C>G	ENSP00000433168.1:p.Ala30Gly
ENST00000528762.2:c.8591C>G	ENSP00000433168.2:p.Ala2864Gly
ENST00000530893.7:c.8222C>G	ENSP00000499438.2:p.Ala2741Gly
ENST00000544455.5:c.8591C>G	ENSP00000439902.1:p.Ala2864Gly
ENST00000544455.6:c.8591C>G	ENSP00000439902.1:p.Ala2864Gly
ENST00000614259.2:c.8599C>G	ENSP00000506251.1:n.8599C>G
ENST00000665585.1:c.1156C>G
ENST00000665585.2:c.8591C>G	ENSP00000499570.2:p.Ala2864Gly
ENST00000666593.2:c.8591C>G	ENSP00000499256.2:p.Ala2864Gly
ENST00000680887.1:c.8591C>G	ENSP00000505508.1:p.Ala2864Gly
ENST00000700202.1:c.1058C>G	ENSP00000514856.1:p.Ala353Gly
ENST00000700202.2:c.8591C>G	ENSP00000514856.2:p.Ala2864Gly
XM_011535203.1:c.8591C>G	XP_011533505.1:p.Ala2864Gly
XM_011535204.1:c.8495C>G	XP_011533506.1:p.Ala2832Gly
XM_011535205.1:c.8591C>G	XP_011533507.1:p.Ala2864Gly