Canonical Allele Identifier: CA2082828660
Community Standard Title: NM_000059.4(BRCA2):c.8677C= (p.Gln2893=)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32376714C= , CM000675.2:g.32376714C= GRCh38
NC_000013.10:g.32950851C= , CM000675.1:g.32950851C= GRCh37
NC_000013.9:g.31848851C= NCBI36
NG_012772.3:g.66235C= , LRG_293:g.66235C=

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8677C= MANE Select NP_000050.3:p.Gln2893=
ENST00000380152.8:c.8677C= MANE Select ENSP00000369497.3:p.Gln2893=
NM_000059.3:c.8677C= , LRG_293t1:c.8677C= NP_000050.2:p.Gln2893=
ENST00000380152.7:c.8677C= ENSP00000369497.3:p.Gln2893=
ENST00000470094.2:c.8677C= ENSP00000434898.2:p.Gln2893=
ENST00000528762.1:c.239C= ENSP00000433168.1:n.239C=
ENST00000528762.2:c.*44C= ENSP00000433168.2:n.*44C=
ENST00000530893.7:c.8308C= ENSP00000499438.2:p.Gln2770=
ENST00000544455.5:c.8677C= ENSP00000439902.1:p.Gln2893=
ENST00000544455.6:c.8677C= ENSP00000439902.1:p.Gln2893=
ENST00000614259.2:c.8685C= ENSP00000506251.1:n.8685C=
ENST00000665585.1:c.1555C=
ENST00000665585.2:c.*239C= ENSP00000499570.2:n.*239C=
ENST00000666593.2:c.8677C= ENSP00000499256.2:p.Gln2893=
ENST00000680887.1:c.8677C= ENSP00000505508.1:p.Gln2893=
ENST00000700202.1:c.1144C= ENSP00000514856.1:p.Gln382=
ENST00000700202.2:c.8677C= ENSP00000514856.2:p.Gln2893=
ENST00000700203.1:n.804C=
XM_011535203.1:c.8677C= XP_011533505.1:p.Gln2893=
XM_011535204.1:c.8581C= XP_011533506.1:p.Gln2861=
XM_011535205.1:c.8677C= XP_011533507.1:p.Gln2893=