Canonical Allele Identifier: CA395139253
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23637913T>A , CM000678.2:g.23637913T>A GRCh38
NC_000016.9:g.23649234T>A , CM000678.1:g.23649234T>A GRCh37
NC_000016.8:g.23556735T>A NCBI36
NG_007406.1:g.8445A>T , LRG_308:g.8445A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.154A>T ENSP00000460666.3:p.Lys52Ter
ENST00000565038.2:c.148A>T ENSP00000459882.2:p.Lys50Ter
ENST00000566069.6:c.148A>T ENSP00000459237.2:p.Lys50Ter
ENST00000697377.2:c.154A>T ENSP00000513286.2:p.Lys52Ter
ENST00000697379.2:c.154A>T ENSP00000513287.2:p.Lys52Ter
ENST00000561514.2:c.-738A>T ENSP00000460666.2:n.-738A>T
ENST00000697374.1:c.-738A>T ENSP00000513284.1:n.-738A>T
ENST00000697375.1:n.1495A>T
ENST00000697376.1:c.-738A>T ENSP00000513285.1:n.-738A>T
ENST00000697377.1:c.-738A>T ENSP00000513286.1:n.-738A>T
ENST00000697378.1:n.668A>T
ENST00000697379.1:c.-738A>T ENSP00000513287.1:n.-738A>T
ENST00000697382.1:c.-738A>T ENSP00000513288.1:n.-738A>T
ENST00000697383.1:c.48+3197A>T ENSP00000513289.1:n.48+3197A>T
ENST00000697384.1:n.302A>T
ENST00000261584.9:c.148A>T MANE Select ENSP00000261584.4:p.Lys50Ter
ENST00000261584.8:c.148A>T ENSP00000261584.4:p.Lys50Ter
ENST00000561514.1:c.154A>T ENSP00000460666.1:p.Lys52Ter
ENST00000565038.1:c.23A>T
ENST00000567003.1:n.426A>T
ENST00000568219.5:c.-738A>T ENSP00000454703.2:n.-738A>T
NM_024675.3:c.148A>T , LRG_308t1:c.148A>T NP_078951.2:p.Lys50Ter
XM_011545946.1:c.154A>T XP_011544248.1:p.Lys52Ter
XM_011545947.1:c.154A>T XP_011544249.1:p.Lys52Ter
XM_011545948.1:c.-738A>T XP_011544250.1:n.-738A>T
XR_950851.1:n.944A>T
XM_011545946.2:c.154A>T XP_011544248.1:p.Lys52Ter
XM_011545947.2:c.154A>T XP_011544249.1:p.Lys52Ter
XM_011545948.2:c.-738A>T XP_011544250.1:n.-738A>T
XM_017023671.1:c.154A>T XP_016879160.1:p.Lys52Ter
XM_017023672.2:c.148A>T XP_016879161.1:p.Lys50Ter
XM_017023673.2:c.148A>T XP_016879162.1:p.Lys50Ter
NM_024675.4:c.148A>T MANE Select NP_078951.2:p.Lys50Ter