Canonical Allele Identifier: CA2213424507
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630456A= , CM000678.2:g.23630456A= GRCh38
NC_000016.9:g.23641777A= , CM000678.1:g.23641777A= GRCh37
NC_000016.8:g.23549278A= NCBI36
NG_007406.1:g.15902T= , LRG_308:g.15902T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1704T= ENSP00000460666.3:p.Arg568=
ENST00000565038.2:c.212-1181T= ENSP00000459882.2:n.212-1181T=
ENST00000566069.6:c.1698T= ENSP00000459237.2:p.Arg566=
ENST00000697377.2:c.1704T= ENSP00000513286.2:p.Arg568=
ENST00000697379.2:c.1704T= ENSP00000513287.2:p.Arg568=
ENST00000561514.2:c.813T= ENSP00000460666.2:p.Arg271=
ENST00000697374.1:c.813T= ENSP00000513284.1:p.Arg271=
ENST00000697375.1:n.3045T=
ENST00000697376.1:c.813T= ENSP00000513285.1:p.Arg271=
ENST00000697377.1:c.813T= ENSP00000513286.1:p.Arg271=
ENST00000697378.1:n.2218T=
ENST00000697379.1:c.813T= ENSP00000513287.1:p.Arg271=
ENST00000697380.1:n.626T=
ENST00000697381.1:n.393T=
ENST00000697382.1:c.813T= ENSP00000513288.1:p.Arg271=
ENST00000697383.1:c.49-1181T= ENSP00000513289.1:n.49-1181T=
ENST00000697384.1:n.1852T=
ENST00000261584.9:c.1698T= MANE Select ENSP00000261584.4:p.Arg566=
ENST00000261584.8:c.1698T= ENSP00000261584.4:p.Arg566=
ENST00000565038.1:c.87-1181T=
ENST00000568219.5:c.813T= ENSP00000454703.2:p.Arg271=
NM_024675.3:c.1698T= , LRG_308t1:c.1698T= NP_078951.2:p.Arg566=
XM_011545946.1:c.1704T= XP_011544248.1:p.Arg568=
XM_011545947.1:c.1704T= XP_011544249.1:p.Arg568=
XM_011545948.1:c.813T= XP_011544250.1:p.Arg271=
XR_950851.1:n.2494T=
XM_011545946.2:c.1704T= XP_011544248.1:p.Arg568=
XM_011545947.2:c.1704T= XP_011544249.1:p.Arg568=
XM_011545948.2:c.813T= XP_011544250.1:p.Arg271=
XM_017023671.1:c.1704T= XP_016879160.1:p.Arg568=
XM_017023672.2:c.1698T= XP_016879161.1:p.Arg566=
XM_017023673.2:c.1698T= XP_016879162.1:p.Arg566=
NM_024675.4:c.1698T= MANE Select NP_078951.2:p.Arg566=