Canonical Allele Identifier: CA395135287
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2122363
ClinVar RCV Id: RCV003054013

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635620A>G , CM000678.2:g.23635620A>G GRCh38
NC_000016.9:g.23646941A>G , CM000678.1:g.23646941A>G GRCh37
NC_000016.8:g.23554442A>G NCBI36
NG_007406.1:g.10738T>C , LRG_308:g.10738T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.932T>C ENSP00000460666.3:p.Ile311Thr
ENST00000565038.2:c.211+2230T>C ENSP00000459882.2:n.211+2230T>C
ENST00000566069.6:c.926T>C ENSP00000459237.2:p.Ile309Thr
ENST00000697377.2:c.932T>C ENSP00000513286.2:p.Ile311Thr
ENST00000697379.2:c.932T>C ENSP00000513287.2:p.Ile311Thr
ENST00000561514.2:c.41T>C ENSP00000460666.2:p.Ile14Thr
ENST00000697374.1:c.41T>C ENSP00000513284.1:p.Ile14Thr
ENST00000697375.1:n.2273T>C
ENST00000697376.1:c.41T>C ENSP00000513285.1:p.Ile14Thr
ENST00000697377.1:c.41T>C ENSP00000513286.1:p.Ile14Thr
ENST00000697378.1:n.1446T>C
ENST00000697379.1:c.41T>C ENSP00000513287.1:p.Ile14Thr
ENST00000697382.1:c.41T>C ENSP00000513288.1:p.Ile14Thr
ENST00000697383.1:c.48+5490T>C ENSP00000513289.1:n.48+5490T>C
ENST00000697384.1:n.1080T>C
ENST00000261584.9:c.926T>C MANE Select ENSP00000261584.4:p.Ile309Thr
ENST00000261584.8:c.926T>C ENSP00000261584.4:p.Ile309Thr
ENST00000565038.1:c.86+2230T>C
ENST00000568219.5:c.41T>C ENSP00000454703.2:p.Ile14Thr
NM_024675.3:c.926T>C , LRG_308t1:c.926T>C NP_078951.2:p.Ile309Thr
XM_011545946.1:c.932T>C XP_011544248.1:p.Ile311Thr
XM_011545947.1:c.932T>C XP_011544249.1:p.Ile311Thr
XM_011545948.1:c.41T>C XP_011544250.1:p.Ile14Thr
XR_950851.1:n.1722T>C
XM_011545946.2:c.932T>C XP_011544248.1:p.Ile311Thr
XM_011545947.2:c.932T>C XP_011544249.1:p.Ile311Thr
XM_011545948.2:c.41T>C XP_011544250.1:p.Ile14Thr
XM_017023671.1:c.932T>C XP_016879160.1:p.Ile311Thr
XM_017023672.2:c.926T>C XP_016879161.1:p.Ile309Thr
XM_017023673.2:c.926T>C XP_016879162.1:p.Ile309Thr
NM_024675.4:c.926T>C MANE Select NP_078951.2:p.Ile309Thr