Canonical Allele Identifier: CA197949
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 187557
dbSNP Id: rs786203821

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635606G>A , CM000678.2:g.23635606G>A GRCh38
NC_000016.9:g.23646927G>A , CM000678.1:g.23646927G>A GRCh37
NC_000016.8:g.23554428G>A NCBI36
NG_007406.1:g.10752C>T , LRG_308:g.10752C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.946C>T ENSP00000460666.3:p.Gln316Ter
ENST00000565038.2:c.211+2244C>T ENSP00000459882.2:n.211+2244C>T
ENST00000566069.6:c.940C>T ENSP00000459237.2:p.Gln314Ter
ENST00000697377.2:c.946C>T ENSP00000513286.2:p.Gln316Ter
ENST00000697379.2:c.946C>T ENSP00000513287.2:p.Gln316Ter
ENST00000561514.2:c.55C>T ENSP00000460666.2:p.Gln19Ter
ENST00000697374.1:c.55C>T ENSP00000513284.1:p.Gln19Ter
ENST00000697375.1:n.2287C>T
ENST00000697376.1:c.55C>T ENSP00000513285.1:p.Gln19Ter
ENST00000697377.1:c.55C>T ENSP00000513286.1:p.Gln19Ter
ENST00000697378.1:n.1460C>T
ENST00000697379.1:c.55C>T ENSP00000513287.1:p.Gln19Ter
ENST00000697382.1:c.55C>T ENSP00000513288.1:p.Gln19Ter
ENST00000697383.1:c.48+5504C>T ENSP00000513289.1:n.48+5504C>T
ENST00000697384.1:n.1094C>T
ENST00000261584.9:c.940C>T MANE Select ENSP00000261584.4:p.Gln314Ter
ENST00000261584.8:c.940C>T ENSP00000261584.4:p.Gln314Ter
ENST00000565038.1:c.86+2244C>T
ENST00000568219.5:c.55C>T ENSP00000454703.2:p.Gln19Ter
NM_024675.3:c.940C>T , LRG_308t1:c.940C>T NP_078951.2:p.Gln314Ter
XM_011545946.1:c.946C>T XP_011544248.1:p.Gln316Ter
XM_011545947.1:c.946C>T XP_011544249.1:p.Gln316Ter
XM_011545948.1:c.55C>T XP_011544250.1:p.Gln19Ter
XR_950851.1:n.1736C>T
XM_011545946.2:c.946C>T XP_011544248.1:p.Gln316Ter
XM_011545947.2:c.946C>T XP_011544249.1:p.Gln316Ter
XM_011545948.2:c.55C>T XP_011544250.1:p.Gln19Ter
XM_017023671.1:c.946C>T XP_016879160.1:p.Gln316Ter
XM_017023672.2:c.940C>T XP_016879161.1:p.Gln314Ter
XM_017023673.2:c.940C>T XP_016879162.1:p.Gln314Ter
NM_024675.4:c.940C>T MANE Select NP_078951.2:p.Gln314Ter