Canonical Allele Identifier: CA395137038
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142441929

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636045A>C , CM000678.2:g.23636045A>C GRCh38
NC_000016.9:g.23647366A>C , CM000678.1:g.23647366A>C GRCh37
NC_000016.8:g.23554867A>C NCBI36
NG_007406.1:g.10313T>G , LRG_308:g.10313T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.507T>G ENSP00000460666.3:p.Asp169Glu
ENST00000565038.2:c.211+1805T>G ENSP00000459882.2:n.211+1805T>G
ENST00000566069.6:c.501T>G ENSP00000459237.2:p.Asp167Glu
ENST00000697377.2:c.507T>G ENSP00000513286.2:p.Asp169Glu
ENST00000697379.2:c.507T>G ENSP00000513287.2:p.Asp169Glu
ENST00000561514.2:c.-385T>G ENSP00000460666.2:n.-385T>G
ENST00000697374.1:c.-385T>G ENSP00000513284.1:n.-385T>G
ENST00000697375.1:n.1848T>G
ENST00000697376.1:c.-385T>G ENSP00000513285.1:n.-385T>G
ENST00000697377.1:c.-385T>G ENSP00000513286.1:n.-385T>G
ENST00000697378.1:n.1021T>G
ENST00000697379.1:c.-385T>G ENSP00000513287.1:n.-385T>G
ENST00000697382.1:c.-385T>G ENSP00000513288.1:n.-385T>G
ENST00000697383.1:c.48+5065T>G ENSP00000513289.1:n.48+5065T>G
ENST00000697384.1:n.655T>G
ENST00000261584.9:c.501T>G MANE Select ENSP00000261584.4:p.Asp167Glu
ENST00000261584.8:c.501T>G ENSP00000261584.4:p.Asp167Glu
ENST00000565038.1:c.86+1805T>G
ENST00000567003.1:n.779T>G
ENST00000568219.5:c.-385T>G ENSP00000454703.2:n.-385T>G
NM_024675.3:c.501T>G , LRG_308t1:c.501T>G NP_078951.2:p.Asp167Glu
XM_011545946.1:c.507T>G XP_011544248.1:p.Asp169Glu
XM_011545947.1:c.507T>G XP_011544249.1:p.Asp169Glu
XM_011545948.1:c.-385T>G XP_011544250.1:n.-385T>G
XR_950851.1:n.1297T>G
XM_011545946.2:c.507T>G XP_011544248.1:p.Asp169Glu
XM_011545947.2:c.507T>G XP_011544249.1:p.Asp169Glu
XM_011545948.2:c.-385T>G XP_011544250.1:n.-385T>G
XM_017023671.1:c.507T>G XP_016879160.1:p.Asp169Glu
XM_017023672.2:c.501T>G XP_016879161.1:p.Asp167Glu
XM_017023673.2:c.501T>G XP_016879162.1:p.Asp167Glu
NM_024675.4:c.501T>G MANE Select NP_078951.2:p.Asp167Glu