Canonical Allele Identifier: CA395131349
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142417233

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635149G>T , CM000678.2:g.23635149G>T GRCh38
NC_000016.9:g.23646470G>T , CM000678.1:g.23646470G>T GRCh37
NC_000016.8:g.23553971G>T NCBI36
NG_007406.1:g.11209C>A , LRG_308:g.11209C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1403C>A ENSP00000460666.3:p.Ser468Tyr
ENST00000565038.2:c.211+2701C>A ENSP00000459882.2:n.211+2701C>A
ENST00000566069.6:c.1397C>A ENSP00000459237.2:p.Ser466Tyr
ENST00000697377.2:c.1403C>A ENSP00000513286.2:p.Ser468Tyr
ENST00000697379.2:c.1403C>A ENSP00000513287.2:p.Ser468Tyr
ENST00000561514.2:c.512C>A ENSP00000460666.2:p.Ser171Tyr
ENST00000697374.1:c.512C>A ENSP00000513284.1:p.Ser171Tyr
ENST00000697375.1:n.2744C>A
ENST00000697376.1:c.512C>A ENSP00000513285.1:p.Ser171Tyr
ENST00000697377.1:c.512C>A ENSP00000513286.1:p.Ser171Tyr
ENST00000697378.1:n.1917C>A
ENST00000697379.1:c.512C>A ENSP00000513287.1:p.Ser171Tyr
ENST00000697382.1:c.512C>A ENSP00000513288.1:p.Ser171Tyr
ENST00000697383.1:c.49-5874C>A ENSP00000513289.1:n.49-5874C>A
ENST00000697384.1:n.1551C>A
ENST00000261584.9:c.1397C>A MANE Select ENSP00000261584.4:p.Ser466Tyr
ENST00000261584.8:c.1397C>A ENSP00000261584.4:p.Ser466Tyr
ENST00000565038.1:c.86+2701C>A
ENST00000568219.5:c.512C>A ENSP00000454703.2:p.Ser171Tyr
NM_024675.3:c.1397C>A , LRG_308t1:c.1397C>A NP_078951.2:p.Ser466Tyr
XM_011545946.1:c.1403C>A XP_011544248.1:p.Ser468Tyr
XM_011545947.1:c.1403C>A XP_011544249.1:p.Ser468Tyr
XM_011545948.1:c.512C>A XP_011544250.1:p.Ser171Tyr
XR_950851.1:n.2193C>A
XM_011545946.2:c.1403C>A XP_011544248.1:p.Ser468Tyr
XM_011545947.2:c.1403C>A XP_011544249.1:p.Ser468Tyr
XM_011545948.2:c.512C>A XP_011544250.1:p.Ser171Tyr
XM_017023671.1:c.1403C>A XP_016879160.1:p.Ser468Tyr
XM_017023672.2:c.1397C>A XP_016879161.1:p.Ser466Tyr
XM_017023673.2:c.1397C>A XP_016879162.1:p.Ser466Tyr
NM_024675.4:c.1397C>A MANE Select NP_078951.2:p.Ser466Tyr