Canonical Allele Identifier: CA2213424068
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630215G= , CM000678.2:g.23630215G= GRCh38
NC_000016.9:g.23641536G= , CM000678.1:g.23641536G= GRCh37
NC_000016.8:g.23549037G= NCBI36
NG_007406.1:g.16143C= , LRG_308:g.16143C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1945C= ENSP00000460666.3:p.His649=
ENST00000565038.2:c.212-940C= ENSP00000459882.2:n.212-940C=
ENST00000566069.6:c.1939C= ENSP00000459237.2:p.His647=
ENST00000697377.2:c.1945C= ENSP00000513286.2:p.His649=
ENST00000697379.2:c.1945C= ENSP00000513287.2:p.His649=
ENST00000561514.2:c.1054C= ENSP00000460666.2:p.His352=
ENST00000697374.1:c.1054C= ENSP00000513284.1:p.His352=
ENST00000697375.1:n.3286C=
ENST00000697376.1:c.1054C= ENSP00000513285.1:p.His352=
ENST00000697377.1:c.1054C= ENSP00000513286.1:p.His352=
ENST00000697378.1:n.2459C=
ENST00000697379.1:c.1054C= ENSP00000513287.1:p.His352=
ENST00000697380.1:n.867C=
ENST00000697381.1:n.634C=
ENST00000697382.1:c.1054C= ENSP00000513288.1:p.His352=
ENST00000697383.1:c.49-940C= ENSP00000513289.1:n.49-940C=
ENST00000697384.1:n.2093C=
ENST00000261584.9:c.1939C= MANE Select ENSP00000261584.4:p.His647=
ENST00000261584.8:c.1939C= ENSP00000261584.4:p.His647=
ENST00000565038.1:c.87-940C=
ENST00000568219.5:c.1054C= ENSP00000454703.2:p.His352=
NM_024675.3:c.1939C= , LRG_308t1:c.1939C= NP_078951.2:p.His647=
XM_011545946.1:c.1945C= XP_011544248.1:p.His649=
XM_011545947.1:c.1945C= XP_011544249.1:p.His649=
XM_011545948.1:c.1054C= XP_011544250.1:p.His352=
XR_950851.1:n.2735C=
XM_011545946.2:c.1945C= XP_011544248.1:p.His649=
XM_011545947.2:c.1945C= XP_011544249.1:p.His649=
XM_011545948.2:c.1054C= XP_011544250.1:p.His352=
XM_017023671.1:c.1945C= XP_016879160.1:p.His649=
XM_017023672.2:c.1939C= XP_016879161.1:p.His647=
XM_017023673.2:c.1939C= XP_016879162.1:p.His647=
NM_024675.4:c.1939C= MANE Select NP_078951.2:p.His647=