Canonical Allele Identifier: CA2082811366
Community Standard Title: NM_000059.4(BRCA2):c.7375A= (p.Lys2459=)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32355228A= , CM000675.2:g.32355228A= GRCh38
NC_000013.10:g.32929365A= , CM000675.1:g.32929365A= GRCh37
NC_000013.9:g.31827365A= NCBI36
NG_012772.3:g.44749A= , LRG_293:g.44749A=

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7375A= MANE Select NP_000050.3:p.Lys2459=
ENST00000380152.8:c.7375A= MANE Select ENSP00000369497.3:p.Lys2459=
NM_000059.3:c.7375A= , LRG_293t1:c.7375A= NP_000050.2:p.Lys2459=
ENST00000380152.7:c.7375A= ENSP00000369497.3:p.Lys2459=
ENST00000470094.2:c.7375A= ENSP00000434898.2:p.Lys2459=
ENST00000528762.2:c.7375A= ENSP00000433168.2:p.Lys2459=
ENST00000530893.7:c.7006A= ENSP00000499438.2:p.Lys2336=
ENST00000544455.5:c.7375A= ENSP00000439902.1:p.Lys2459=
ENST00000544455.6:c.7375A= ENSP00000439902.1:p.Lys2459=
ENST00000614259.1:n.7375A=
ENST00000614259.2:c.7375A= ENSP00000506251.1:p.Lys2459=
ENST00000665585.2:c.7375A= ENSP00000499570.2:p.Lys2459=
ENST00000666593.2:c.7375A= ENSP00000499256.2:p.Lys2459=
ENST00000680887.1:c.7375A= ENSP00000505508.1:p.Lys2459=
ENST00000700202.2:c.7375A= ENSP00000514856.2:p.Lys2459=
XM_011535203.1:c.7375A= XP_011533505.1:p.Lys2459=
XM_011535204.1:c.7279A= XP_011533506.1:p.Lys2427=
XM_011535205.1:c.7375A= XP_011533507.1:p.Lys2459=