Canonical Allele Identifier: CA395137468
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142444689

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636162A>T , CM000678.2:g.23636162A>T GRCh38
NC_000016.9:g.23647483A>T , CM000678.1:g.23647483A>T GRCh37
NC_000016.8:g.23554984A>T NCBI36
NG_007406.1:g.10196T>A , LRG_308:g.10196T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.390T>A ENSP00000460666.3:p.Phe130Leu
ENST00000565038.2:c.211+1688T>A ENSP00000459882.2:n.211+1688T>A
ENST00000566069.6:c.384T>A ENSP00000459237.2:p.Phe128Leu
ENST00000697377.2:c.390T>A ENSP00000513286.2:p.Phe130Leu
ENST00000697379.2:c.390T>A ENSP00000513287.2:p.Phe130Leu
ENST00000561514.2:c.-502T>A ENSP00000460666.2:n.-502T>A
ENST00000697374.1:c.-502T>A ENSP00000513284.1:n.-502T>A
ENST00000697375.1:n.1731T>A
ENST00000697376.1:c.-502T>A ENSP00000513285.1:n.-502T>A
ENST00000697377.1:c.-502T>A ENSP00000513286.1:n.-502T>A
ENST00000697378.1:n.904T>A
ENST00000697379.1:c.-502T>A ENSP00000513287.1:n.-502T>A
ENST00000697382.1:c.-502T>A ENSP00000513288.1:n.-502T>A
ENST00000697383.1:c.48+4948T>A ENSP00000513289.1:n.48+4948T>A
ENST00000697384.1:n.538T>A
ENST00000261584.9:c.384T>A MANE Select ENSP00000261584.4:p.Phe128Leu
ENST00000261584.8:c.384T>A ENSP00000261584.4:p.Phe128Leu
ENST00000565038.1:c.86+1688T>A
ENST00000567003.1:n.662T>A
ENST00000568219.5:c.-502T>A ENSP00000454703.2:n.-502T>A
NM_024675.3:c.384T>A , LRG_308t1:c.384T>A NP_078951.2:p.Phe128Leu
XM_011545946.1:c.390T>A XP_011544248.1:p.Phe130Leu
XM_011545947.1:c.390T>A XP_011544249.1:p.Phe130Leu
XM_011545948.1:c.-502T>A XP_011544250.1:n.-502T>A
XR_950851.1:n.1180T>A
XM_011545946.2:c.390T>A XP_011544248.1:p.Phe130Leu
XM_011545947.2:c.390T>A XP_011544249.1:p.Phe130Leu
XM_011545948.2:c.-502T>A XP_011544250.1:n.-502T>A
XM_017023671.1:c.390T>A XP_016879160.1:p.Phe130Leu
XM_017023672.2:c.384T>A XP_016879161.1:p.Phe128Leu
XM_017023673.2:c.384T>A XP_016879162.1:p.Phe128Leu
NM_024675.4:c.384T>A MANE Select NP_078951.2:p.Phe128Leu