Canonical Allele Identifier: CA024964
Community Standard Title: NM_000059.4(BRCA2):c.7210_7216delinsTG (p.Lys2404CysfsTer6)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32355063_32355069delinsTG , CM000675.2:g.32355063_32355069delinsTG GRCh38
NC_000013.10:g.32929200_32929206delinsTG , CM000675.1:g.32929200_32929206delinsTG GRCh37
NC_000013.9:g.31827200_31827206delinsTG NCBI36
NG_012772.3:g.44584_44590delinsTG , LRG_293:g.44584_44590delinsTG

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.7210_7216delinsTG MANE Select NP_000050.3:p.Lys2404CysfsTer6
ENST00000380152.8:c.7210_7216delinsTG MANE Select ENSP00000369497.3:p.Lys2404CysfsTer6
NM_000059.3:c.7210_7216delinsTG , LRG_293t1:c.7210_7216delinsTG NP_000050.2:p.Lys2404CysfsTer6
ENST00000380152.7:c.7210_7216delinsTG ENSP00000369497.3:p.Lys2404CysfsTer6
ENST00000470094.2:c.7210_7216delinsTG ENSP00000434898.2:p.Lys2404CysfsTer6
ENST00000528762.2:c.7210_7216delinsTG ENSP00000433168.2:p.Lys2404CysfsTer6
ENST00000530893.7:c.6841_6847delinsTG ENSP00000499438.2:p.Lys2281CysfsTer6
ENST00000544455.5:c.7210_7216delinsTG ENSP00000439902.1:p.Lys2404CysfsTer6
ENST00000544455.6:c.7210_7216delinsTG ENSP00000439902.1:p.Lys2404CysfsTer6
ENST00000614259.1:n.7210_7216delinsTG
ENST00000614259.2:c.7210_7216delinsTG ENSP00000506251.1:p.Lys2404CysfsTer6
ENST00000665585.2:c.7210_7216delinsTG ENSP00000499570.2:p.Lys2404CysfsTer6
ENST00000666593.2:c.7210_7216delinsTG ENSP00000499256.2:p.Lys2404CysfsTer6
ENST00000680887.1:c.7210_7216delinsTG ENSP00000505508.1:p.Lys2404CysfsTer6
ENST00000700202.2:c.7210_7216delinsTG ENSP00000514856.2:p.Lys2404CysfsTer6
XM_011535203.1:c.7210_7216delinsTG XP_011533505.1:p.Lys2404CysfsTer6
XM_011535204.1:c.7114_7120delinsTG XP_011533506.1:p.Lys2372CysfsTer6
XM_011535205.1:c.7210_7216delinsTG XP_011533507.1:p.Lys2404CysfsTer6