Canonical Allele Identifier: CA7963704
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 225853
dbSNP Id: rs770965402

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635068G>A , CM000678.2:g.23635068G>A GRCh38
NC_000016.9:g.23646389G>A , CM000678.1:g.23646389G>A GRCh37
NC_000016.8:g.23553890G>A NCBI36
NG_007406.1:g.11290C>T , LRG_308:g.11290C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1484C>T ENSP00000460666.3:p.Pro495Leu
ENST00000565038.2:c.211+2782C>T ENSP00000459882.2:n.211+2782C>T
ENST00000566069.6:c.1478C>T ENSP00000459237.2:p.Pro493Leu
ENST00000697377.2:c.1484C>T ENSP00000513286.2:p.Pro495Leu
ENST00000697379.2:c.1484C>T ENSP00000513287.2:p.Pro495Leu
ENST00000561514.2:c.593C>T ENSP00000460666.2:p.Pro198Leu
ENST00000697374.1:c.593C>T ENSP00000513284.1:p.Pro198Leu
ENST00000697375.1:n.2825C>T
ENST00000697376.1:c.593C>T ENSP00000513285.1:p.Pro198Leu
ENST00000697377.1:c.593C>T ENSP00000513286.1:p.Pro198Leu
ENST00000697378.1:n.1998C>T
ENST00000697379.1:c.593C>T ENSP00000513287.1:p.Pro198Leu
ENST00000697382.1:c.593C>T ENSP00000513288.1:p.Pro198Leu
ENST00000697383.1:c.49-5793C>T ENSP00000513289.1:n.49-5793C>T
ENST00000697384.1:n.1632C>T
ENST00000261584.9:c.1478C>T MANE Select ENSP00000261584.4:p.Pro493Leu
ENST00000261584.8:c.1478C>T ENSP00000261584.4:p.Pro493Leu
ENST00000565038.1:c.86+2782C>T
ENST00000568219.5:c.593C>T ENSP00000454703.2:p.Pro198Leu
NM_024675.3:c.1478C>T , LRG_308t1:c.1478C>T NP_078951.2:p.Pro493Leu
XM_011545946.1:c.1484C>T XP_011544248.1:p.Pro495Leu
XM_011545947.1:c.1484C>T XP_011544249.1:p.Pro495Leu
XM_011545948.1:c.593C>T XP_011544250.1:p.Pro198Leu
XR_950851.1:n.2274C>T
XM_011545946.2:c.1484C>T XP_011544248.1:p.Pro495Leu
XM_011545947.2:c.1484C>T XP_011544249.1:p.Pro495Leu
XM_011545948.2:c.593C>T XP_011544250.1:p.Pro198Leu
XM_017023671.1:c.1484C>T XP_016879160.1:p.Pro495Leu
XM_017023672.2:c.1478C>T XP_016879161.1:p.Pro493Leu
XM_017023673.2:c.1478C>T XP_016879162.1:p.Pro493Leu
NM_024675.4:c.1478C>T MANE Select NP_078951.2:p.Pro493Leu