Canonical Allele Identifier: CA2213432466
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636297G= , CM000678.2:g.23636297G= GRCh38
NC_000016.9:g.23647618G= , CM000678.1:g.23647618G= GRCh37
NC_000016.8:g.23555119G= NCBI36
NG_007406.1:g.10061C= , LRG_308:g.10061C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.255C= ENSP00000460666.3:p.His85=
ENST00000565038.2:c.211+1553C= ENSP00000459882.2:n.211+1553C=
ENST00000566069.6:c.249C= ENSP00000459237.2:p.His83=
ENST00000697377.2:c.255C= ENSP00000513286.2:p.His85=
ENST00000697379.2:c.255C= ENSP00000513287.2:p.His85=
ENST00000561514.2:c.-637C= ENSP00000460666.2:n.-637C=
ENST00000697374.1:c.-637C= ENSP00000513284.1:n.-637C=
ENST00000697375.1:n.1596C=
ENST00000697376.1:c.-637C= ENSP00000513285.1:n.-637C=
ENST00000697377.1:c.-637C= ENSP00000513286.1:n.-637C=
ENST00000697378.1:n.769C=
ENST00000697379.1:c.-637C= ENSP00000513287.1:n.-637C=
ENST00000697382.1:c.-637C= ENSP00000513288.1:n.-637C=
ENST00000697383.1:c.48+4813C= ENSP00000513289.1:n.48+4813C=
ENST00000697384.1:n.403C=
ENST00000261584.9:c.249C= MANE Select ENSP00000261584.4:p.His83=
ENST00000261584.8:c.249C= ENSP00000261584.4:p.His83=
ENST00000561514.1:c.255C= ENSP00000460666.1:p.His85=
ENST00000565038.1:c.86+1553C=
ENST00000567003.1:n.527C=
ENST00000568219.5:c.-637C= ENSP00000454703.2:n.-637C=
NM_024675.3:c.249C= , LRG_308t1:c.249C= NP_078951.2:p.His83=
XM_011545946.1:c.255C= XP_011544248.1:p.His85=
XM_011545947.1:c.255C= XP_011544249.1:p.His85=
XM_011545948.1:c.-637C= XP_011544250.1:n.-637C=
XR_950851.1:n.1045C=
XM_011545946.2:c.255C= XP_011544248.1:p.His85=
XM_011545947.2:c.255C= XP_011544249.1:p.His85=
XM_011545948.2:c.-637C= XP_011544250.1:n.-637C=
XM_017023671.1:c.255C= XP_016879160.1:p.His85=
XM_017023672.2:c.249C= XP_016879161.1:p.His83=
XM_017023673.2:c.249C= XP_016879162.1:p.His83=
NM_024675.4:c.249C= MANE Select NP_078951.2:p.His83=