Canonical Allele Identifier: CA919242758
Gene: BRCA2 HGNC NCBI

Linked Data

dbSNP Id: rs1566242055

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32356530_32356545del , CM000675.2:g.32356530_32356545del GRCh38
NC_000013.10:g.32930667_32930682del , CM000675.1:g.32930667_32930682del GRCh37
NC_000013.9:g.31828667_31828682del NCBI36
NG_012772.3:g.46051_46066del , LRG_293:g.46051_46066del

Transcript Alleles

HGVS Amino-acid Change
ENST00000470094.2:c.7538_7553del ENSP00000434898.2:p.Ala2513GlyfsTer6
ENST00000528762.2:c.7538_7553del ENSP00000433168.2:p.Ala2513GlyfsTer6
ENST00000530893.7:c.7169_7184del ENSP00000499438.2:p.Ala2390GlyfsTer6
ENST00000665585.2:c.7538_7553del ENSP00000499570.2:p.Ala2513GlyfsTer6
ENST00000666593.2:c.7538_7553del ENSP00000499256.2:p.Ala2513GlyfsTer6
ENST00000700202.2:c.7538_7553del ENSP00000514856.2:p.Ala2513GlyfsTer6
ENST00000700202.1:c.5_20del ENSP00000514856.1:p.Ala2GlyfsTer6
ENST00000380152.8:c.7538_7553del MANE Select ENSP00000369497.3:p.Ala2513GlyfsTer6
ENST00000544455.6:c.7538_7553del ENSP00000439902.1:p.Ala2513GlyfsTer6
ENST00000614259.2:c.7538_7553del ENSP00000506251.1:p.Ala2513GlyfsTer6
ENST00000665585.1:c.103_118del
ENST00000680887.1:c.7538_7553del ENSP00000505508.1:p.Ala2513GlyfsTer6
ENST00000380152.7:c.7538_7553del ENSP00000369497.3:p.Ala2513GlyfsTer6
ENST00000544455.5:c.7538_7553del ENSP00000439902.1:p.Ala2513GlyfsTer6
ENST00000614259.1:n.7538_7553del
NM_000059.3:c.7538_7553del , LRG_293t1:c.7538_7553del NP_000050.2:p.Ala2513GlyfsTer6
XM_011535203.1:c.7538_7553del XP_011533505.1:p.Ala2513GlyfsTer6
XM_011535204.1:c.7442_7457del XP_011533506.1:p.Ala2481GlyfsTer6
XM_011535205.1:c.7538_7553del XP_011533507.1:p.Ala2513GlyfsTer6
NM_000059.4:c.7538_7553del MANE Select NP_000050.3:p.Ala2513GlyfsTer6