Canonical Allele Identifier: CA395141016
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641113T>G , CM000678.2:g.23641113T>G GRCh38
NC_000016.9:g.23652434T>G , CM000678.1:g.23652434T>G GRCh37
NC_000016.8:g.23559935T>G NCBI36
NG_007406.1:g.5245A>C , LRG_308:g.5245A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-808A>C ENSP00000460666.3:n.-808A>C
ENST00000565038.2:c.45A>C ENSP00000459882.2:p.Glu15Asp
ENST00000566069.6:c.45A>C ENSP00000459237.2:p.Glu15Asp
ENST00000697377.2:c.-195A>C ENSP00000513286.2:n.-195A>C
ENST00000697379.2:c.-101A>C ENSP00000513287.2:n.-101A>C
ENST00000561514.2:c.-1699A>C ENSP00000460666.2:n.-1699A>C
ENST00000697374.1:c.-1290A>C ENSP00000513284.1:n.-1290A>C
ENST00000697376.1:c.-1011A>C ENSP00000513285.1:n.-1011A>C
ENST00000697377.1:c.-1086A>C ENSP00000513286.1:n.-1086A>C
ENST00000697379.1:c.-992A>C ENSP00000513287.1:n.-992A>C
ENST00000697382.1:c.-1750A>C ENSP00000513288.1:n.-1750A>C
ENST00000697383.1:c.45A>C ENSP00000513289.1:p.Glu15Asp
ENST00000697384.1:n.199A>C
ENST00000261584.9:c.45A>C MANE Select ENSP00000261584.4:p.Glu15Asp
ENST00000261584.8:c.45A>C ENSP00000261584.4:p.Glu15Asp
ENST00000567003.1:n.189A>C
ENST00000568219.5:c.-838+14A>C ENSP00000454703.2:n.-838+14A>C
NM_024675.3:c.45A>C , LRG_308t1:c.45A>C NP_078951.2:p.Glu15Asp
XM_011545948.1:c.-975A>C XP_011544250.1:n.-975A>C
XM_011545946.2:c.-808A>C XP_011544248.1:n.-808A>C
XM_011545947.2:c.-808A>C XP_011544249.1:n.-808A>C
XM_011545948.2:c.-975A>C XP_011544250.1:n.-975A>C
XM_017023671.1:c.-808A>C XP_016879160.1:n.-808A>C
XM_017023672.2:c.45A>C XP_016879161.1:p.Glu15Asp
XM_017023673.2:c.45A>C XP_016879162.1:p.Glu15Asp
NM_024675.4:c.45A>C MANE Select NP_078951.2:p.Glu15Asp