Canonical Allele Identifier: CA395141162
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1018417
ClinVar RCV Id: RCV001317714
dbSNP Id: rs947155109

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641138T>A , CM000678.2:g.23641138T>A GRCh38
NC_000016.9:g.23652459T>A , CM000678.1:g.23652459T>A GRCh37
NC_000016.8:g.23559960T>A NCBI36
NG_007406.1:g.5220A>T , LRG_308:g.5220A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-833A>T ENSP00000460666.3:n.-833A>T
ENST00000565038.2:c.20A>T ENSP00000459882.2:p.Lys7Met
ENST00000566069.6:c.20A>T ENSP00000459237.2:p.Lys7Met
ENST00000697377.2:c.-220A>T ENSP00000513286.2:n.-220A>T
ENST00000697379.2:c.-126A>T ENSP00000513287.2:n.-126A>T
ENST00000561514.2:c.-1724A>T ENSP00000460666.2:n.-1724A>T
ENST00000697374.1:c.-1315A>T ENSP00000513284.1:n.-1315A>T
ENST00000697376.1:c.-1036A>T ENSP00000513285.1:n.-1036A>T
ENST00000697377.1:c.-1111A>T ENSP00000513286.1:n.-1111A>T
ENST00000697379.1:c.-1017A>T ENSP00000513287.1:n.-1017A>T
ENST00000697382.1:c.-1775A>T ENSP00000513288.1:n.-1775A>T
ENST00000697383.1:c.20A>T ENSP00000513289.1:p.Lys7Met
ENST00000697384.1:n.174A>T
ENST00000261584.9:c.20A>T MANE Select ENSP00000261584.4:p.Lys7Met
ENST00000261584.8:c.20A>T ENSP00000261584.4:p.Lys7Met
ENST00000567003.1:n.164A>T
ENST00000568219.5:c.-849A>T ENSP00000454703.2:n.-849A>T
NM_024675.3:c.20A>T , LRG_308t1:c.20A>T NP_078951.2:p.Lys7Met
XM_011545948.1:c.-1000A>T XP_011544250.1:n.-1000A>T
XM_011545946.2:c.-833A>T XP_011544248.1:n.-833A>T
XM_011545947.2:c.-833A>T XP_011544249.1:n.-833A>T
XM_011545948.2:c.-1000A>T XP_011544250.1:n.-1000A>T
XM_017023671.1:c.-833A>T XP_016879160.1:n.-833A>T
XM_017023672.2:c.20A>T XP_016879161.1:p.Lys7Met
XM_017023673.2:c.20A>T XP_016879162.1:p.Lys7Met
NM_024675.4:c.20A>T MANE Select NP_078951.2:p.Lys7Met