Canonical Allele Identifier: CA395131254
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1317091
ClinVar RCV Id: RCV001758963
dbSNP Id: rs2142415827

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635104A>G , CM000678.2:g.23635104A>G GRCh38
NC_000016.9:g.23646425A>G , CM000678.1:g.23646425A>G GRCh37
NC_000016.8:g.23553926A>G NCBI36
NG_007406.1:g.11254T>C , LRG_308:g.11254T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1448T>C ENSP00000460666.3:p.Leu483Pro
ENST00000565038.2:c.211+2746T>C ENSP00000459882.2:n.211+2746T>C
ENST00000566069.6:c.1442T>C ENSP00000459237.2:p.Leu481Pro
ENST00000697377.2:c.1448T>C ENSP00000513286.2:p.Leu483Pro
ENST00000697379.2:c.1448T>C ENSP00000513287.2:p.Leu483Pro
ENST00000561514.2:c.557T>C ENSP00000460666.2:p.Leu186Pro
ENST00000697374.1:c.557T>C ENSP00000513284.1:p.Leu186Pro
ENST00000697375.1:n.2789T>C
ENST00000697376.1:c.557T>C ENSP00000513285.1:p.Leu186Pro
ENST00000697377.1:c.557T>C ENSP00000513286.1:p.Leu186Pro
ENST00000697378.1:n.1962T>C
ENST00000697379.1:c.557T>C ENSP00000513287.1:p.Leu186Pro
ENST00000697382.1:c.557T>C ENSP00000513288.1:p.Leu186Pro
ENST00000697383.1:c.49-5829T>C ENSP00000513289.1:n.49-5829T>C
ENST00000697384.1:n.1596T>C
ENST00000261584.9:c.1442T>C MANE Select ENSP00000261584.4:p.Leu481Pro
ENST00000261584.8:c.1442T>C ENSP00000261584.4:p.Leu481Pro
ENST00000565038.1:c.86+2746T>C
ENST00000568219.5:c.557T>C ENSP00000454703.2:p.Leu186Pro
NM_024675.3:c.1442T>C , LRG_308t1:c.1442T>C NP_078951.2:p.Leu481Pro
XM_011545946.1:c.1448T>C XP_011544248.1:p.Leu483Pro
XM_011545947.1:c.1448T>C XP_011544249.1:p.Leu483Pro
XM_011545948.1:c.557T>C XP_011544250.1:p.Leu186Pro
XR_950851.1:n.2238T>C
XM_011545946.2:c.1448T>C XP_011544248.1:p.Leu483Pro
XM_011545947.2:c.1448T>C XP_011544249.1:p.Leu483Pro
XM_011545948.2:c.557T>C XP_011544250.1:p.Leu186Pro
XM_017023671.1:c.1448T>C XP_016879160.1:p.Leu483Pro
XM_017023672.2:c.1442T>C XP_016879161.1:p.Leu481Pro
XM_017023673.2:c.1442T>C XP_016879162.1:p.Leu481Pro
NM_024675.4:c.1442T>C MANE Select NP_078951.2:p.Leu481Pro