Canonical Allele Identifier: CA299799
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 126652
dbSNP Id: rs150390726

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641135G>A , CM000678.2:g.23641135G>A GRCh38
NC_000016.9:g.23652456G>A , CM000678.1:g.23652456G>A GRCh37
NC_000016.8:g.23559957G>A NCBI36
NG_007406.1:g.5223C>T , LRG_308:g.5223C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-830C>T ENSP00000460666.3:n.-830C>T
ENST00000565038.2:c.23C>T ENSP00000459882.2:p.Pro8Leu
ENST00000566069.6:c.23C>T ENSP00000459237.2:p.Pro8Leu
ENST00000697377.2:c.-217C>T ENSP00000513286.2:n.-217C>T
ENST00000697379.2:c.-123C>T ENSP00000513287.2:n.-123C>T
ENST00000561514.2:c.-1721C>T ENSP00000460666.2:n.-1721C>T
ENST00000697374.1:c.-1312C>T ENSP00000513284.1:n.-1312C>T
ENST00000697376.1:c.-1033C>T ENSP00000513285.1:n.-1033C>T
ENST00000697377.1:c.-1108C>T ENSP00000513286.1:n.-1108C>T
ENST00000697379.1:c.-1014C>T ENSP00000513287.1:n.-1014C>T
ENST00000697382.1:c.-1772C>T ENSP00000513288.1:n.-1772C>T
ENST00000697383.1:c.23C>T ENSP00000513289.1:p.Pro8Leu
ENST00000697384.1:n.177C>T
ENST00000261584.9:c.23C>T MANE Select ENSP00000261584.4:p.Pro8Leu
ENST00000261584.8:c.23C>T ENSP00000261584.4:p.Pro8Leu
ENST00000567003.1:n.167C>T
ENST00000568219.5:c.-846C>T ENSP00000454703.2:n.-846C>T
NM_024675.3:c.23C>T , LRG_308t1:c.23C>T NP_078951.2:p.Pro8Leu
XM_011545948.1:c.-997C>T XP_011544250.1:n.-997C>T
XM_011545946.2:c.-830C>T XP_011544248.1:n.-830C>T
XM_011545947.2:c.-830C>T XP_011544249.1:n.-830C>T
XM_011545948.2:c.-997C>T XP_011544250.1:n.-997C>T
XM_017023671.1:c.-830C>T XP_016879160.1:n.-830C>T
XM_017023672.2:c.23C>T XP_016879161.1:p.Pro8Leu
XM_017023673.2:c.23C>T XP_016879162.1:p.Pro8Leu
NM_024675.4:c.23C>T MANE Select NP_078951.2:p.Pro8Leu