Canonical Allele Identifier: CA025511
Community Standard Title: NM_000059.4(BRCA2):c.8205_8206del (p.Leu2737SerfsTer26)
Gene: BRCA2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32363407_32363408del , CM000675.2:g.32363407_32363408del GRCh38
NC_000013.10:g.32937544_32937545del , CM000675.1:g.32937544_32937545del GRCh37
NC_000013.9:g.31835544_31835545del NCBI36
NG_012772.3:g.52928_52929del , LRG_293:g.52928_52929del

Transcript Alleles

HGVS Amino-acid Change
NM_000059.4:c.8205_8206del MANE Select NP_000050.3:p.Leu2737SerfsTer26
ENST00000380152.8:c.8205_8206del MANE Select ENSP00000369497.3:p.Leu2737SerfsTer26
NM_000059.3:c.8205_8206del , LRG_293t1:c.8205_8206del NP_000050.2:p.Leu2737SerfsTer26
ENST00000380152.7:c.8205_8206del ENSP00000369497.3:p.Leu2737SerfsTer26
ENST00000470094.2:c.8205_8206del ENSP00000434898.2:p.Leu2737SerfsTer26
ENST00000528762.2:c.8205_8206del ENSP00000433168.2:p.Leu2737SerfsTer26
ENST00000530893.7:c.7836_7837del ENSP00000499438.2:p.Leu2614SerfsTer26
ENST00000544455.5:c.8205_8206del ENSP00000439902.1:p.Leu2737SerfsTer26
ENST00000544455.6:c.8205_8206del ENSP00000439902.1:p.Leu2737SerfsTer26
ENST00000614259.2:c.8213_8214del ENSP00000506251.1:n.8213_8214del
ENST00000665585.1:c.770_771del
ENST00000665585.2:c.8205_8206del ENSP00000499570.2:p.Leu2737SerfsTer26
ENST00000666593.2:c.8205_8206del ENSP00000499256.2:p.Leu2737SerfsTer26
ENST00000680887.1:c.8205_8206del ENSP00000505508.1:p.Leu2737SerfsTer26
ENST00000700202.1:c.672_673del ENSP00000514856.1:p.Leu226SerfsTer26
ENST00000700202.2:c.8205_8206del ENSP00000514856.2:p.Leu2737SerfsTer26
XM_011535203.1:c.8205_8206del XP_011533505.1:p.Leu2737SerfsTer26
XM_011535204.1:c.8109_8110del XP_011533506.1:p.Leu2705SerfsTer26
XM_011535205.1:c.8205_8206del XP_011533507.1:p.Leu2737SerfsTer26