Canonical Allele Identifier: CA395138006
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603546A>C , CM000678.2:g.23603546A>C GRCh38
NC_000016.9:g.23614867A>C , CM000678.1:g.23614867A>C GRCh37
NC_000016.8:g.23522368A>C NCBI36
NG_007406.1:g.42812T>G , LRG_308:g.42812T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3480T>G ENSP00000460666.3:p.His1160Gln
ENST00000565038.2:c.*959T>G ENSP00000459882.2:n.*959T>G
ENST00000566069.6:c.*109T>G ENSP00000459237.2:n.*109T>G
ENST00000697377.2:c.3318T>G ENSP00000513286.2:p.His1106Gln
ENST00000697379.2:c.3480T>G ENSP00000513287.2:p.His1160Gln
ENST00000561514.2:c.2589T>G ENSP00000460666.2:p.His863Gln
ENST00000697374.1:c.2589T>G ENSP00000513284.1:p.His863Gln
ENST00000697375.1:n.4821T>G
ENST00000697376.1:c.*109T>G ENSP00000513285.1:n.*109T>G
ENST00000697377.1:c.2427T>G ENSP00000513286.1:p.His809Gln
ENST00000697378.1:n.3994T>G
ENST00000697379.1:c.2589T>G ENSP00000513287.1:p.His863Gln
ENST00000697380.1:n.2678T>G
ENST00000697381.1:n.2169T>G
ENST00000697382.1:c.*251T>G ENSP00000513288.1:n.*251T>G
ENST00000697383.1:c.1008T>G ENSP00000513289.1:p.His336Gln
ENST00000261584.9:c.3474T>G MANE Select ENSP00000261584.4:p.His1158Gln
ENST00000261584.8:c.3474T>G ENSP00000261584.4:p.His1158Gln
ENST00000566069.5:c.240T>G
ENST00000568219.5:c.2589T>G ENSP00000454703.2:p.His863Gln
NM_024675.3:c.3474T>G , LRG_308t1:c.3474T>G NP_078951.2:p.His1158Gln
XM_011545946.1:c.3480T>G XP_011544248.1:p.His1160Gln
XM_011545947.1:c.*109T>G XP_011544249.1:n.*109T>G
XM_011545948.1:c.2589T>G XP_011544250.1:p.His863Gln
XR_950851.1:n.4182T>G
XM_011545946.2:c.3480T>G XP_011544248.1:p.His1160Gln
XM_011545947.2:c.*109T>G XP_011544249.1:n.*109T>G
XM_011545948.2:c.2589T>G XP_011544250.1:p.His863Gln
XM_017023671.1:c.3243T>G XP_016879160.1:p.His1081Gln
XM_017023672.2:c.3237T>G XP_016879161.1:p.His1079Gln
XM_017023673.2:c.*109T>G XP_016879162.1:n.*109T>G
NM_024675.4:c.3474T>G MANE Select NP_078951.2:p.His1158Gln