Canonical Allele Identifier: CA395130803
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 835904
ClinVar RCV Id: RCV001036902
dbSNP Id: rs1060502805

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23634993G>A , CM000678.2:g.23634993G>A GRCh38
NC_000016.9:g.23646314G>A , CM000678.1:g.23646314G>A GRCh37
NC_000016.8:g.23553815G>A NCBI36
NG_007406.1:g.11365C>T , LRG_308:g.11365C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1559C>T ENSP00000460666.3:p.Ser520Leu
ENST00000565038.2:c.211+2857C>T ENSP00000459882.2:n.211+2857C>T
ENST00000566069.6:c.1553C>T ENSP00000459237.2:p.Ser518Leu
ENST00000697377.2:c.1559C>T ENSP00000513286.2:p.Ser520Leu
ENST00000697379.2:c.1559C>T ENSP00000513287.2:p.Ser520Leu
ENST00000561514.2:c.668C>T ENSP00000460666.2:p.Ser223Leu
ENST00000697374.1:c.668C>T ENSP00000513284.1:p.Ser223Leu
ENST00000697375.1:n.2900C>T
ENST00000697376.1:c.668C>T ENSP00000513285.1:p.Ser223Leu
ENST00000697377.1:c.668C>T ENSP00000513286.1:p.Ser223Leu
ENST00000697378.1:n.2073C>T
ENST00000697379.1:c.668C>T ENSP00000513287.1:p.Ser223Leu
ENST00000697382.1:c.668C>T ENSP00000513288.1:p.Ser223Leu
ENST00000697383.1:c.49-5718C>T ENSP00000513289.1:n.49-5718C>T
ENST00000697384.1:n.1707C>T
ENST00000261584.9:c.1553C>T MANE Select ENSP00000261584.4:p.Ser518Leu
ENST00000261584.8:c.1553C>T ENSP00000261584.4:p.Ser518Leu
ENST00000565038.1:c.86+2857C>T
ENST00000568219.5:c.668C>T ENSP00000454703.2:p.Ser223Leu
NM_024675.3:c.1553C>T , LRG_308t1:c.1553C>T NP_078951.2:p.Ser518Leu
XM_011545946.1:c.1559C>T XP_011544248.1:p.Ser520Leu
XM_011545947.1:c.1559C>T XP_011544249.1:p.Ser520Leu
XM_011545948.1:c.668C>T XP_011544250.1:p.Ser223Leu
XR_950851.1:n.2349C>T
XM_011545946.2:c.1559C>T XP_011544248.1:p.Ser520Leu
XM_011545947.2:c.1559C>T XP_011544249.1:p.Ser520Leu
XM_011545948.2:c.668C>T XP_011544250.1:p.Ser223Leu
XM_017023671.1:c.1559C>T XP_016879160.1:p.Ser520Leu
XM_017023672.2:c.1553C>T XP_016879161.1:p.Ser518Leu
XM_017023673.2:c.1553C>T XP_016879162.1:p.Ser518Leu
NM_024675.4:c.1553C>T MANE Select NP_078951.2:p.Ser518Leu