Canonical Allele Identifier: CA2213427774
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635014C= , CM000678.2:g.23635014C= GRCh38
NC_000016.9:g.23646335C= , CM000678.1:g.23646335C= GRCh37
NC_000016.8:g.23553836C= NCBI36
NG_007406.1:g.11344G= , LRG_308:g.11344G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1538G= ENSP00000460666.3:p.Arg513=
ENST00000565038.2:c.211+2836G= ENSP00000459882.2:n.211+2836G=
ENST00000566069.6:c.1532G= ENSP00000459237.2:p.Arg511=
ENST00000697377.2:c.1538G= ENSP00000513286.2:p.Arg513=
ENST00000697379.2:c.1538G= ENSP00000513287.2:p.Arg513=
ENST00000561514.2:c.647G= ENSP00000460666.2:p.Arg216=
ENST00000697374.1:c.647G= ENSP00000513284.1:p.Arg216=
ENST00000697375.1:n.2879G=
ENST00000697376.1:c.647G= ENSP00000513285.1:p.Arg216=
ENST00000697377.1:c.647G= ENSP00000513286.1:p.Arg216=
ENST00000697378.1:n.2052G=
ENST00000697379.1:c.647G= ENSP00000513287.1:p.Arg216=
ENST00000697382.1:c.647G= ENSP00000513288.1:p.Arg216=
ENST00000697383.1:c.49-5739G= ENSP00000513289.1:n.49-5739G=
ENST00000697384.1:n.1686G=
ENST00000261584.9:c.1532G= MANE Select ENSP00000261584.4:p.Arg511=
ENST00000261584.8:c.1532G= ENSP00000261584.4:p.Arg511=
ENST00000565038.1:c.86+2836G=
ENST00000568219.5:c.647G= ENSP00000454703.2:p.Arg216=
NM_024675.3:c.1532G= , LRG_308t1:c.1532G= NP_078951.2:p.Arg511=
XM_011545946.1:c.1538G= XP_011544248.1:p.Arg513=
XM_011545947.1:c.1538G= XP_011544249.1:p.Arg513=
XM_011545948.1:c.647G= XP_011544250.1:p.Arg216=
XR_950851.1:n.2328G=
XM_011545946.2:c.1538G= XP_011544248.1:p.Arg513=
XM_011545947.2:c.1538G= XP_011544249.1:p.Arg513=
XM_011545948.2:c.647G= XP_011544250.1:p.Arg216=
XM_017023671.1:c.1538G= XP_016879160.1:p.Arg513=
XM_017023672.2:c.1532G= XP_016879161.1:p.Arg511=
XM_017023673.2:c.1532G= XP_016879162.1:p.Arg511=
NM_024675.4:c.1532G= MANE Select NP_078951.2:p.Arg511=