Canonical Allele Identifier: CA395138232
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1731145
ClinVar RCV Id: RCV002452144
dbSNP Id: rs2142254480

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603611T>G , CM000678.2:g.23603611T>G GRCh38
NC_000016.9:g.23614932T>G , CM000678.1:g.23614932T>G GRCh37
NC_000016.8:g.23522433T>G NCBI36
NG_007406.1:g.42747A>C , LRG_308:g.42747A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3415A>C ENSP00000460666.3:p.Ile1139Leu
ENST00000565038.2:c.*894A>C ENSP00000459882.2:n.*894A>C
ENST00000566069.6:c.*44A>C ENSP00000459237.2:n.*44A>C
ENST00000697377.2:c.3253A>C ENSP00000513286.2:p.Ile1085Leu
ENST00000697379.2:c.3415A>C ENSP00000513287.2:p.Ile1139Leu
ENST00000561514.2:c.2524A>C ENSP00000460666.2:p.Ile842Leu
ENST00000697374.1:c.2524A>C ENSP00000513284.1:p.Ile842Leu
ENST00000697375.1:n.4756A>C
ENST00000697376.1:c.*44A>C ENSP00000513285.1:n.*44A>C
ENST00000697377.1:c.2362A>C ENSP00000513286.1:p.Ile788Leu
ENST00000697378.1:n.3929A>C
ENST00000697379.1:c.2524A>C ENSP00000513287.1:p.Ile842Leu
ENST00000697380.1:n.2613A>C
ENST00000697381.1:n.2104A>C
ENST00000697382.1:c.*186A>C ENSP00000513288.1:n.*186A>C
ENST00000697383.1:c.943A>C ENSP00000513289.1:p.Ile315Leu
ENST00000261584.9:c.3409A>C MANE Select ENSP00000261584.4:p.Ile1137Leu
ENST00000261584.8:c.3409A>C ENSP00000261584.4:p.Ile1137Leu
ENST00000566069.5:c.175A>C
ENST00000568219.5:c.2524A>C ENSP00000454703.2:p.Ile842Leu
NM_024675.3:c.3409A>C , LRG_308t1:c.3409A>C NP_078951.2:p.Ile1137Leu
XM_011545946.1:c.3415A>C XP_011544248.1:p.Ile1139Leu
XM_011545947.1:c.*44A>C XP_011544249.1:n.*44A>C
XM_011545948.1:c.2524A>C XP_011544250.1:p.Ile842Leu
XR_950851.1:n.4117A>C
XM_011545946.2:c.3415A>C XP_011544248.1:p.Ile1139Leu
XM_011545947.2:c.*44A>C XP_011544249.1:n.*44A>C
XM_011545948.2:c.2524A>C XP_011544250.1:p.Ile842Leu
XM_017023671.1:c.3178A>C XP_016879160.1:p.Ile1060Leu
XM_017023672.2:c.3172A>C XP_016879161.1:p.Ile1058Leu
XM_017023673.2:c.*44A>C XP_016879162.1:n.*44A>C
NM_024675.4:c.3409A>C MANE Select NP_078951.2:p.Ile1137Leu