Canonical Allele Identifier: CA395137969
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142252792

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603538A>T , CM000678.2:g.23603538A>T GRCh38
NC_000016.9:g.23614859A>T , CM000678.1:g.23614859A>T GRCh37
NC_000016.8:g.23522360A>T NCBI36
NG_007406.1:g.42820T>A , LRG_308:g.42820T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3488T>A ENSP00000460666.3:p.Phe1163Tyr
ENST00000565038.2:c.*967T>A ENSP00000459882.2:n.*967T>A
ENST00000566069.6:c.*117T>A ENSP00000459237.2:n.*117T>A
ENST00000697377.2:c.3326T>A ENSP00000513286.2:p.Phe1109Tyr
ENST00000697379.2:c.3488T>A ENSP00000513287.2:p.Phe1163Tyr
ENST00000561514.2:c.2597T>A ENSP00000460666.2:p.Phe866Tyr
ENST00000697374.1:c.2597T>A ENSP00000513284.1:p.Phe866Tyr
ENST00000697375.1:n.4829T>A
ENST00000697376.1:c.*117T>A ENSP00000513285.1:n.*117T>A
ENST00000697377.1:c.2435T>A ENSP00000513286.1:p.Phe812Tyr
ENST00000697378.1:n.4002T>A
ENST00000697379.1:c.2597T>A ENSP00000513287.1:p.Phe866Tyr
ENST00000697380.1:n.2686T>A
ENST00000697381.1:n.2177T>A
ENST00000697382.1:c.*259T>A ENSP00000513288.1:n.*259T>A
ENST00000697383.1:c.1016T>A ENSP00000513289.1:p.Phe339Tyr
ENST00000261584.9:c.3482T>A MANE Select ENSP00000261584.4:p.Phe1161Tyr
ENST00000261584.8:c.3482T>A ENSP00000261584.4:p.Phe1161Tyr
ENST00000566069.5:c.248T>A
ENST00000568219.5:c.2597T>A ENSP00000454703.2:p.Phe866Tyr
NM_024675.3:c.3482T>A , LRG_308t1:c.3482T>A NP_078951.2:p.Phe1161Tyr
XM_011545946.1:c.3488T>A XP_011544248.1:p.Phe1163Tyr
XM_011545947.1:c.*117T>A XP_011544249.1:n.*117T>A
XM_011545948.1:c.2597T>A XP_011544250.1:p.Phe866Tyr
XR_950851.1:n.4190T>A
XM_011545946.2:c.3488T>A XP_011544248.1:p.Phe1163Tyr
XM_011545947.2:c.*117T>A XP_011544249.1:n.*117T>A
XM_011545948.2:c.2597T>A XP_011544250.1:p.Phe866Tyr
XM_017023671.1:c.3251T>A XP_016879160.1:p.Phe1084Tyr
XM_017023672.2:c.3245T>A XP_016879161.1:p.Phe1082Tyr
XM_017023673.2:c.*117T>A XP_016879162.1:n.*117T>A
NM_024675.4:c.3482T>A MANE Select NP_078951.2:p.Phe1161Tyr