Canonical Allele Identifier: CA395141003
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1064795514

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641111T>A , CM000678.2:g.23641111T>A GRCh38
NC_000016.9:g.23652432T>A , CM000678.1:g.23652432T>A GRCh37
NC_000016.8:g.23559933T>A NCBI36
NG_007406.1:g.5247A>T , LRG_308:g.5247A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-806A>T ENSP00000460666.3:n.-806A>T
ENST00000565038.2:c.47A>T ENSP00000459882.2:p.Lys16Met
ENST00000566069.6:c.47A>T ENSP00000459237.2:p.Lys16Met
ENST00000697377.2:c.-193A>T ENSP00000513286.2:n.-193A>T
ENST00000697379.2:c.-99A>T ENSP00000513287.2:n.-99A>T
ENST00000561514.2:c.-1697A>T ENSP00000460666.2:n.-1697A>T
ENST00000697374.1:c.-1288A>T ENSP00000513284.1:n.-1288A>T
ENST00000697376.1:c.-1009A>T ENSP00000513285.1:n.-1009A>T
ENST00000697377.1:c.-1084A>T ENSP00000513286.1:n.-1084A>T
ENST00000697379.1:c.-990A>T ENSP00000513287.1:n.-990A>T
ENST00000697382.1:c.-1748A>T ENSP00000513288.1:n.-1748A>T
ENST00000697383.1:c.47A>T ENSP00000513289.1:p.Lys16Met
ENST00000697384.1:n.201A>T
ENST00000261584.9:c.47A>T MANE Select ENSP00000261584.4:p.Lys16Met
ENST00000261584.8:c.47A>T ENSP00000261584.4:p.Lys16Met
ENST00000567003.1:n.191A>T
ENST00000568219.5:c.-838+16A>T ENSP00000454703.2:n.-838+16A>T
NM_024675.3:c.47A>T , LRG_308t1:c.47A>T NP_078951.2:p.Lys16Met
XM_011545948.1:c.-973A>T XP_011544250.1:n.-973A>T
XM_011545946.2:c.-806A>T XP_011544248.1:n.-806A>T
XM_011545947.2:c.-806A>T XP_011544249.1:n.-806A>T
XM_011545948.2:c.-973A>T XP_011544250.1:n.-973A>T
XM_017023671.1:c.-806A>T XP_016879160.1:n.-806A>T
XM_017023672.2:c.47A>T XP_016879161.1:p.Lys16Met
XM_017023673.2:c.47A>T XP_016879162.1:p.Lys16Met
NM_024675.4:c.47A>T MANE Select NP_078951.2:p.Lys16Met