Canonical Allele Identifier: CA395128459
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs746582620

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1702C>G ENSP00000460666.3:p.Arg568Gly
ENST00000565038.2:c.212-1183C>G ENSP00000459882.2:n.212-1183C>G
ENST00000566069.6:c.1696C>G ENSP00000459237.2:p.Arg566Gly
ENST00000697377.2:c.1702C>G ENSP00000513286.2:p.Arg568Gly
ENST00000697379.2:c.1702C>G ENSP00000513287.2:p.Arg568Gly
ENST00000561514.2:c.811C>G ENSP00000460666.2:p.Arg271Gly
ENST00000697374.1:c.811C>G ENSP00000513284.1:p.Arg271Gly
ENST00000697375.1:n.3043C>G
ENST00000697376.1:c.811C>G ENSP00000513285.1:p.Arg271Gly
ENST00000697377.1:c.811C>G ENSP00000513286.1:p.Arg271Gly
ENST00000697378.1:n.2216C>G
ENST00000697379.1:c.811C>G ENSP00000513287.1:p.Arg271Gly
ENST00000697380.1:n.624C>G
ENST00000697381.1:n.391C>G
ENST00000697382.1:c.811C>G ENSP00000513288.1:p.Arg271Gly
ENST00000697383.1:c.49-1183C>G ENSP00000513289.1:n.49-1183C>G
ENST00000697384.1:n.1850C>G
ENST00000261584.9:c.1696C>G MANE Select ENSP00000261584.4:p.Arg566Gly
ENST00000261584.8:c.1696C>G ENSP00000261584.4:p.Arg566Gly
ENST00000565038.1:c.87-1183C>G
ENST00000568219.5:c.811C>G ENSP00000454703.2:p.Arg271Gly
NM_024675.3:c.1696C>G , LRG_308t1:c.1696C>G NP_078951.2:p.Arg566Gly
XM_011545946.1:c.1702C>G XP_011544248.1:p.Arg568Gly
XM_011545947.1:c.1702C>G XP_011544249.1:p.Arg568Gly
XM_011545948.1:c.811C>G XP_011544250.1:p.Arg271Gly
XR_950851.1:n.2492C>G
XM_011545946.2:c.1702C>G XP_011544248.1:p.Arg568Gly
XM_011545947.2:c.1702C>G XP_011544249.1:p.Arg568Gly
XM_011545948.2:c.811C>G XP_011544250.1:p.Arg271Gly
XM_017023671.1:c.1702C>G XP_016879160.1:p.Arg568Gly
XM_017023672.2:c.1696C>G XP_016879161.1:p.Arg566Gly
XM_017023673.2:c.1696C>G XP_016879162.1:p.Arg566Gly
NM_024675.4:c.1696C>G MANE Select NP_078951.2:p.Arg566Gly