Canonical Allele Identifier: CA395128458
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1778228
ClinVar RCV Id: RCV002414662

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630458G>T , CM000678.2:g.23630458G>T GRCh38
NC_000016.9:g.23641779G>T , CM000678.1:g.23641779G>T GRCh37
NC_000016.8:g.23549280G>T NCBI36
NG_007406.1:g.15900C>A , LRG_308:g.15900C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1702C>A ENSP00000460666.3:p.Arg568Ser
ENST00000565038.2:c.212-1183C>A ENSP00000459882.2:n.212-1183C>A
ENST00000566069.6:c.1696C>A ENSP00000459237.2:p.Arg566Ser
ENST00000697377.2:c.1702C>A ENSP00000513286.2:p.Arg568Ser
ENST00000697379.2:c.1702C>A ENSP00000513287.2:p.Arg568Ser
ENST00000561514.2:c.811C>A ENSP00000460666.2:p.Arg271Ser
ENST00000697374.1:c.811C>A ENSP00000513284.1:p.Arg271Ser
ENST00000697375.1:n.3043C>A
ENST00000697376.1:c.811C>A ENSP00000513285.1:p.Arg271Ser
ENST00000697377.1:c.811C>A ENSP00000513286.1:p.Arg271Ser
ENST00000697378.1:n.2216C>A
ENST00000697379.1:c.811C>A ENSP00000513287.1:p.Arg271Ser
ENST00000697380.1:n.624C>A
ENST00000697381.1:n.391C>A
ENST00000697382.1:c.811C>A ENSP00000513288.1:p.Arg271Ser
ENST00000697383.1:c.49-1183C>A ENSP00000513289.1:n.49-1183C>A
ENST00000697384.1:n.1850C>A
ENST00000261584.9:c.1696C>A MANE Select ENSP00000261584.4:p.Arg566Ser
ENST00000261584.8:c.1696C>A ENSP00000261584.4:p.Arg566Ser
ENST00000565038.1:c.87-1183C>A
ENST00000568219.5:c.811C>A ENSP00000454703.2:p.Arg271Ser
NM_024675.3:c.1696C>A , LRG_308t1:c.1696C>A NP_078951.2:p.Arg566Ser
XM_011545946.1:c.1702C>A XP_011544248.1:p.Arg568Ser
XM_011545947.1:c.1702C>A XP_011544249.1:p.Arg568Ser
XM_011545948.1:c.811C>A XP_011544250.1:p.Arg271Ser
XR_950851.1:n.2492C>A
XM_011545946.2:c.1702C>A XP_011544248.1:p.Arg568Ser
XM_011545947.2:c.1702C>A XP_011544249.1:p.Arg568Ser
XM_011545948.2:c.811C>A XP_011544250.1:p.Arg271Ser
XM_017023671.1:c.1702C>A XP_016879160.1:p.Arg568Ser
XM_017023672.2:c.1696C>A XP_016879161.1:p.Arg566Ser
XM_017023673.2:c.1696C>A XP_016879162.1:p.Arg566Ser
NM_024675.4:c.1696C>A MANE Select NP_078951.2:p.Arg566Ser