Canonical Allele Identifier: CA395142757
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621363A>C , CM000678.2:g.23621363A>C GRCh38
NC_000016.9:g.23632684A>C , CM000678.1:g.23632684A>C GRCh37
NC_000016.8:g.23540185A>C NCBI36
NG_007406.1:g.24995T>G , LRG_308:g.24995T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3118T>G ENSP00000460666.3:p.Trp1040Gly
ENST00000565038.2:c.*593T>G ENSP00000459882.2:n.*593T>G
ENST00000566069.6:c.3112T>G ENSP00000459237.2:p.Trp1038Gly
ENST00000697377.2:c.2956T>G ENSP00000513286.2:p.Trp986Gly
ENST00000697379.2:c.3118T>G ENSP00000513287.2:p.Trp1040Gly
ENST00000561514.2:c.2227T>G ENSP00000460666.2:p.Trp743Gly
ENST00000697374.1:c.2227T>G ENSP00000513284.1:p.Trp743Gly
ENST00000697375.1:n.4459T>G
ENST00000697376.1:c.2227T>G ENSP00000513285.1:p.Trp743Gly
ENST00000697377.1:c.2065T>G ENSP00000513286.1:p.Trp689Gly
ENST00000697378.1:n.3632T>G
ENST00000697379.1:c.2227T>G ENSP00000513287.1:p.Trp743Gly
ENST00000697380.1:n.2404T>G
ENST00000697381.1:n.1807T>G
ENST00000697382.1:c.2227T>G ENSP00000513288.1:p.Trp743Gly
ENST00000697383.1:c.646T>G ENSP00000513289.1:p.Trp216Gly
ENST00000261584.9:c.3112T>G MANE Select ENSP00000261584.4:p.Trp1038Gly
ENST00000261584.8:c.3112T>G ENSP00000261584.4:p.Trp1038Gly
ENST00000566069.5:c.27T>G
ENST00000568219.5:c.2227T>G ENSP00000454703.2:p.Trp743Gly
NM_024675.3:c.3112T>G , LRG_308t1:c.3112T>G NP_078951.2:p.Trp1038Gly
XM_011545946.1:c.3118T>G XP_011544248.1:p.Trp1040Gly
XM_011545947.1:c.3118T>G XP_011544249.1:p.Trp1040Gly
XM_011545948.1:c.2227T>G XP_011544250.1:p.Trp743Gly
XR_950851.1:n.3908T>G
XM_011545946.2:c.3118T>G XP_011544248.1:p.Trp1040Gly
XM_011545947.2:c.3118T>G XP_011544249.1:p.Trp1040Gly
XM_011545948.2:c.2227T>G XP_011544250.1:p.Trp743Gly
XM_017023671.1:c.3118T>G XP_016879160.1:p.Trp1040Gly
XM_017023672.2:c.3112T>G XP_016879161.1:p.Trp1038Gly
XM_017023673.2:c.3112T>G XP_016879162.1:p.Trp1038Gly
NM_024675.4:c.3112T>G MANE Select NP_078951.2:p.Trp1038Gly