Canonical Allele Identifier: CA151239
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126683
dbSNP Id: rs45478192

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624027A>C , CM000678.2:g.23624027A>C GRCh38
NC_000016.9:g.23635348A>C , CM000678.1:g.23635348A>C GRCh37
NC_000016.8:g.23542849A>C NCBI36
NG_007406.1:g.22331T>G , LRG_308:g.22331T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2822T>G ENSP00000460666.3:p.Leu941Trp
ENST00000565038.2:c.*297T>G ENSP00000459882.2:n.*297T>G
ENST00000566069.6:c.2816T>G ENSP00000459237.2:p.Leu939Trp
ENST00000697377.2:c.2660T>G ENSP00000513286.2:p.Leu887Trp
ENST00000697379.2:c.2822T>G ENSP00000513287.2:p.Leu941Trp
ENST00000561514.2:c.1931T>G ENSP00000460666.2:p.Leu644Trp
ENST00000697374.1:c.1931T>G ENSP00000513284.1:p.Leu644Trp
ENST00000697375.1:n.4163T>G
ENST00000697376.1:c.1931T>G ENSP00000513285.1:p.Leu644Trp
ENST00000697377.1:c.1769T>G ENSP00000513286.1:p.Leu590Trp
ENST00000697378.1:n.3336T>G
ENST00000697379.1:c.1931T>G ENSP00000513287.1:p.Leu644Trp
ENST00000697380.1:n.2108T>G
ENST00000697381.1:n.1511T>G
ENST00000697382.1:c.1931T>G ENSP00000513288.1:p.Leu644Trp
ENST00000697383.1:c.350T>G ENSP00000513289.1:p.Leu117Trp
ENST00000261584.9:c.2816T>G MANE Select ENSP00000261584.4:p.Leu939Trp
ENST00000261584.8:c.2816T>G ENSP00000261584.4:p.Leu939Trp
ENST00000568219.5:c.1931T>G ENSP00000454703.2:p.Leu644Trp
NM_024675.3:c.2816T>G , LRG_308t1:c.2816T>G NP_078951.2:p.Leu939Trp
XM_011545946.1:c.2822T>G XP_011544248.1:p.Leu941Trp
XM_011545947.1:c.2822T>G XP_011544249.1:p.Leu941Trp
XM_011545948.1:c.1931T>G XP_011544250.1:p.Leu644Trp
XR_950851.1:n.3612T>G
XM_011545946.2:c.2822T>G XP_011544248.1:p.Leu941Trp
XM_011545947.2:c.2822T>G XP_011544249.1:p.Leu941Trp
XM_011545948.2:c.1931T>G XP_011544250.1:p.Leu644Trp
XM_017023671.1:c.2822T>G XP_016879160.1:p.Leu941Trp
XM_017023672.2:c.2816T>G XP_016879161.1:p.Leu939Trp
XM_017023673.2:c.2816T>G XP_016879162.1:p.Leu939Trp
NM_024675.4:c.2816T>G MANE Select NP_078951.2:p.Leu939Trp