Canonical Allele Identifier: CA395124970
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2562466
ClinVar RCV Id: RCV003310526
dbSNP Id: rs2142375203

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629813T>G , CM000678.2:g.23629813T>G GRCh38
NC_000016.9:g.23641134T>G , CM000678.1:g.23641134T>G GRCh37
NC_000016.8:g.23548635T>G NCBI36
NG_007406.1:g.16545A>C , LRG_308:g.16545A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2347A>C ENSP00000460666.3:p.Ser783Arg
ENST00000565038.2:c.212-538A>C ENSP00000459882.2:n.212-538A>C
ENST00000566069.6:c.2341A>C ENSP00000459237.2:p.Ser781Arg
ENST00000697377.2:c.2347A>C ENSP00000513286.2:p.Ser783Arg
ENST00000697379.2:c.2347A>C ENSP00000513287.2:p.Ser783Arg
ENST00000561514.2:c.1456A>C ENSP00000460666.2:p.Ser486Arg
ENST00000697374.1:c.1456A>C ENSP00000513284.1:p.Ser486Arg
ENST00000697375.1:n.3688A>C
ENST00000697376.1:c.1456A>C ENSP00000513285.1:p.Ser486Arg
ENST00000697377.1:c.1456A>C ENSP00000513286.1:p.Ser486Arg
ENST00000697378.1:n.2861A>C
ENST00000697379.1:c.1456A>C ENSP00000513287.1:p.Ser486Arg
ENST00000697380.1:n.1269A>C
ENST00000697381.1:n.1036A>C
ENST00000697382.1:c.1456A>C ENSP00000513288.1:p.Ser486Arg
ENST00000697383.1:c.49-538A>C ENSP00000513289.1:n.49-538A>C
ENST00000697384.1:n.2495A>C
ENST00000261584.9:c.2341A>C MANE Select ENSP00000261584.4:p.Ser781Arg
ENST00000261584.8:c.2341A>C ENSP00000261584.4:p.Ser781Arg
ENST00000565038.1:c.87-538A>C
ENST00000568219.5:c.1456A>C ENSP00000454703.2:p.Ser486Arg
NM_024675.3:c.2341A>C , LRG_308t1:c.2341A>C NP_078951.2:p.Ser781Arg
XM_011545946.1:c.2347A>C XP_011544248.1:p.Ser783Arg
XM_011545947.1:c.2347A>C XP_011544249.1:p.Ser783Arg
XM_011545948.1:c.1456A>C XP_011544250.1:p.Ser486Arg
XR_950851.1:n.3137A>C
XM_011545946.2:c.2347A>C XP_011544248.1:p.Ser783Arg
XM_011545947.2:c.2347A>C XP_011544249.1:p.Ser783Arg
XM_011545948.2:c.1456A>C XP_011544250.1:p.Ser486Arg
XM_017023671.1:c.2347A>C XP_016879160.1:p.Ser783Arg
XM_017023672.2:c.2341A>C XP_016879161.1:p.Ser781Arg
XM_017023673.2:c.2341A>C XP_016879162.1:p.Ser781Arg
NM_024675.4:c.2341A>C MANE Select NP_078951.2:p.Ser781Arg