Canonical Allele Identifier: CA395141061
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs760609798

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641122C>A , CM000678.2:g.23641122C>A GRCh38
NC_000016.9:g.23652443C>A , CM000678.1:g.23652443C>A GRCh37
NC_000016.8:g.23559944C>A NCBI36
NG_007406.1:g.5236G>T , LRG_308:g.5236G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-817G>T ENSP00000460666.3:n.-817G>T
ENST00000565038.2:c.36G>T ENSP00000459882.2:p.Glu12Asp
ENST00000566069.6:c.36G>T ENSP00000459237.2:p.Glu12Asp
ENST00000697377.2:c.-204G>T ENSP00000513286.2:n.-204G>T
ENST00000697379.2:c.-110G>T ENSP00000513287.2:n.-110G>T
ENST00000561514.2:c.-1708G>T ENSP00000460666.2:n.-1708G>T
ENST00000697374.1:c.-1299G>T ENSP00000513284.1:n.-1299G>T
ENST00000697376.1:c.-1020G>T ENSP00000513285.1:n.-1020G>T
ENST00000697377.1:c.-1095G>T ENSP00000513286.1:n.-1095G>T
ENST00000697379.1:c.-1001G>T ENSP00000513287.1:n.-1001G>T
ENST00000697382.1:c.-1759G>T ENSP00000513288.1:n.-1759G>T
ENST00000697383.1:c.36G>T ENSP00000513289.1:p.Glu12Asp
ENST00000697384.1:n.190G>T
ENST00000261584.9:c.36G>T MANE Select ENSP00000261584.4:p.Glu12Asp
ENST00000261584.8:c.36G>T ENSP00000261584.4:p.Glu12Asp
ENST00000567003.1:n.180G>T
ENST00000568219.5:c.-838+5G>T ENSP00000454703.2:n.-838+5G>T
NM_024675.3:c.36G>T , LRG_308t1:c.36G>T NP_078951.2:p.Glu12Asp
XM_011545948.1:c.-984G>T XP_011544250.1:n.-984G>T
XM_011545946.2:c.-817G>T XP_011544248.1:n.-817G>T
XM_011545947.2:c.-817G>T XP_011544249.1:n.-817G>T
XM_011545948.2:c.-984G>T XP_011544250.1:n.-984G>T
XM_017023671.1:c.-817G>T XP_016879160.1:n.-817G>T
XM_017023672.2:c.36G>T XP_016879161.1:p.Glu12Asp
XM_017023673.2:c.36G>T XP_016879162.1:p.Glu12Asp
NM_024675.4:c.36G>T MANE Select NP_078951.2:p.Glu12Asp