Canonical Allele Identifier: CA395124940
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1060499820

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23629811G>C , CM000678.2:g.23629811G>C GRCh38
NC_000016.9:g.23641132G>C , CM000678.1:g.23641132G>C GRCh37
NC_000016.8:g.23548633G>C NCBI36
NG_007406.1:g.16547C>G , LRG_308:g.16547C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2349C>G ENSP00000460666.3:p.Ser783Arg
ENST00000565038.2:c.212-536C>G ENSP00000459882.2:n.212-536C>G
ENST00000566069.6:c.2343C>G ENSP00000459237.2:p.Ser781Arg
ENST00000697377.2:c.2349C>G ENSP00000513286.2:p.Ser783Arg
ENST00000697379.2:c.2349C>G ENSP00000513287.2:p.Ser783Arg
ENST00000561514.2:c.1458C>G ENSP00000460666.2:p.Ser486Arg
ENST00000697374.1:c.1458C>G ENSP00000513284.1:p.Ser486Arg
ENST00000697375.1:n.3690C>G
ENST00000697376.1:c.1458C>G ENSP00000513285.1:p.Ser486Arg
ENST00000697377.1:c.1458C>G ENSP00000513286.1:p.Ser486Arg
ENST00000697378.1:n.2863C>G
ENST00000697379.1:c.1458C>G ENSP00000513287.1:p.Ser486Arg
ENST00000697380.1:n.1271C>G
ENST00000697381.1:n.1038C>G
ENST00000697382.1:c.1458C>G ENSP00000513288.1:p.Ser486Arg
ENST00000697383.1:c.49-536C>G ENSP00000513289.1:n.49-536C>G
ENST00000697384.1:n.2497C>G
ENST00000261584.9:c.2343C>G MANE Select ENSP00000261584.4:p.Ser781Arg
ENST00000261584.8:c.2343C>G ENSP00000261584.4:p.Ser781Arg
ENST00000565038.1:c.87-536C>G
ENST00000568219.5:c.1458C>G ENSP00000454703.2:p.Ser486Arg
NM_024675.3:c.2343C>G , LRG_308t1:c.2343C>G NP_078951.2:p.Ser781Arg
XM_011545946.1:c.2349C>G XP_011544248.1:p.Ser783Arg
XM_011545947.1:c.2349C>G XP_011544249.1:p.Ser783Arg
XM_011545948.1:c.1458C>G XP_011544250.1:p.Ser486Arg
XR_950851.1:n.3139C>G
XM_011545946.2:c.2349C>G XP_011544248.1:p.Ser783Arg
XM_011545947.2:c.2349C>G XP_011544249.1:p.Ser783Arg
XM_011545948.2:c.1458C>G XP_011544250.1:p.Ser486Arg
XM_017023671.1:c.2349C>G XP_016879160.1:p.Ser783Arg
XM_017023672.2:c.2343C>G XP_016879161.1:p.Ser781Arg
XM_017023673.2:c.2343C>G XP_016879162.1:p.Ser781Arg
NM_024675.4:c.2343C>G MANE Select NP_078951.2:p.Ser781Arg