Canonical Allele Identifier: CA10579913
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 234009
dbSNP Id: rs876660792

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603545A>G , CM000678.2:g.23603545A>G GRCh38
NC_000016.9:g.23614866A>G , CM000678.1:g.23614866A>G GRCh37
NC_000016.8:g.23522367A>G NCBI36
NG_007406.1:g.42813T>C , LRG_308:g.42813T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3481T>C ENSP00000460666.3:p.Trp1161Arg
ENST00000565038.2:c.*960T>C ENSP00000459882.2:n.*960T>C
ENST00000566069.6:c.*110T>C ENSP00000459237.2:n.*110T>C
ENST00000697377.2:c.3319T>C ENSP00000513286.2:p.Trp1107Arg
ENST00000697379.2:c.3481T>C ENSP00000513287.2:p.Trp1161Arg
ENST00000561514.2:c.2590T>C ENSP00000460666.2:p.Trp864Arg
ENST00000697374.1:c.2590T>C ENSP00000513284.1:p.Trp864Arg
ENST00000697375.1:n.4822T>C
ENST00000697376.1:c.*110T>C ENSP00000513285.1:n.*110T>C
ENST00000697377.1:c.2428T>C ENSP00000513286.1:p.Trp810Arg
ENST00000697378.1:n.3995T>C
ENST00000697379.1:c.2590T>C ENSP00000513287.1:p.Trp864Arg
ENST00000697380.1:n.2679T>C
ENST00000697381.1:n.2170T>C
ENST00000697382.1:c.*252T>C ENSP00000513288.1:n.*252T>C
ENST00000697383.1:c.1009T>C ENSP00000513289.1:p.Trp337Arg
ENST00000261584.9:c.3475T>C MANE Select ENSP00000261584.4:p.Trp1159Arg
ENST00000261584.8:c.3475T>C ENSP00000261584.4:p.Trp1159Arg
ENST00000566069.5:c.241T>C
ENST00000568219.5:c.2590T>C ENSP00000454703.2:p.Trp864Arg
NM_024675.3:c.3475T>C , LRG_308t1:c.3475T>C NP_078951.2:p.Trp1159Arg
XM_011545946.1:c.3481T>C XP_011544248.1:p.Trp1161Arg
XM_011545947.1:c.*110T>C XP_011544249.1:n.*110T>C
XM_011545948.1:c.2590T>C XP_011544250.1:p.Trp864Arg
XR_950851.1:n.4183T>C
XM_011545946.2:c.3481T>C XP_011544248.1:p.Trp1161Arg
XM_011545947.2:c.*110T>C XP_011544249.1:n.*110T>C
XM_011545948.2:c.2590T>C XP_011544250.1:p.Trp864Arg
XM_017023671.1:c.3244T>C XP_016879160.1:p.Trp1082Arg
XM_017023672.2:c.3238T>C XP_016879161.1:p.Trp1080Arg
XM_017023673.2:c.*110T>C XP_016879162.1:n.*110T>C
NM_024675.4:c.3475T>C MANE Select NP_078951.2:p.Trp1159Arg