Canonical Allele Identifier: CA2213429893
Gene: PALB2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635579C= , CM000678.2:g.23635579C= GRCh38
NC_000016.9:g.23646900C= , CM000678.1:g.23646900C= GRCh37
NC_000016.8:g.23554401C= NCBI36
NG_007406.1:g.10779G= , LRG_308:g.10779G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.973G= ENSP00000460666.3:p.Ala325=
ENST00000565038.2:c.211+2271G= ENSP00000459882.2:n.211+2271G=
ENST00000566069.6:c.967G= ENSP00000459237.2:p.Ala323=
ENST00000697377.2:c.973G= ENSP00000513286.2:p.Ala325=
ENST00000697379.2:c.973G= ENSP00000513287.2:p.Ala325=
ENST00000561514.2:c.82G= ENSP00000460666.2:p.Ala28=
ENST00000697374.1:c.82G= ENSP00000513284.1:p.Ala28=
ENST00000697375.1:n.2314G=
ENST00000697376.1:c.82G= ENSP00000513285.1:p.Ala28=
ENST00000697377.1:c.82G= ENSP00000513286.1:p.Ala28=
ENST00000697378.1:n.1487G=
ENST00000697379.1:c.82G= ENSP00000513287.1:p.Ala28=
ENST00000697382.1:c.82G= ENSP00000513288.1:p.Ala28=
ENST00000697383.1:c.48+5531G= ENSP00000513289.1:n.48+5531G=
ENST00000697384.1:n.1121G=
ENST00000261584.9:c.967G= MANE Select ENSP00000261584.4:p.Ala323=
ENST00000261584.8:c.967G= ENSP00000261584.4:p.Ala323=
ENST00000565038.1:c.86+2271G=
ENST00000568219.5:c.82G= ENSP00000454703.2:p.Ala28=
NM_024675.3:c.967G= , LRG_308t1:c.967G= NP_078951.2:p.Ala323=
XM_011545946.1:c.973G= XP_011544248.1:p.Ala325=
XM_011545947.1:c.973G= XP_011544249.1:p.Ala325=
XM_011545948.1:c.82G= XP_011544250.1:p.Ala28=
XR_950851.1:n.1763G=
XM_011545946.2:c.973G= XP_011544248.1:p.Ala325=
XM_011545947.2:c.973G= XP_011544249.1:p.Ala325=
XM_011545948.2:c.82G= XP_011544250.1:p.Ala28=
XM_017023671.1:c.973G= XP_016879160.1:p.Ala325=
XM_017023672.2:c.967G= XP_016879161.1:p.Ala323=
XM_017023673.2:c.967G= XP_016879162.1:p.Ala323=
NM_024675.4:c.967G= MANE Select NP_078951.2:p.Ala323=