Canonical Allele Identifier: CA395144025
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs2142335274

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23623011G>A , CM000678.2:g.23623011G>A GRCh38
NC_000016.9:g.23634332G>A , CM000678.1:g.23634332G>A GRCh37
NC_000016.8:g.23541833G>A NCBI36
NG_007406.1:g.23347C>T , LRG_308:g.23347C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2960C>T ENSP00000460666.3:p.Ser987Phe
ENST00000565038.2:c.*435C>T ENSP00000459882.2:n.*435C>T
ENST00000566069.6:c.2954C>T ENSP00000459237.2:p.Ser985Phe
ENST00000697377.2:c.2798C>T ENSP00000513286.2:p.Ser933Phe
ENST00000697379.2:c.2960C>T ENSP00000513287.2:p.Ser987Phe
ENST00000561514.2:c.2069C>T ENSP00000460666.2:p.Ser690Phe
ENST00000697374.1:c.2069C>T ENSP00000513284.1:p.Ser690Phe
ENST00000697375.1:n.4301C>T
ENST00000697376.1:c.2069C>T ENSP00000513285.1:p.Ser690Phe
ENST00000697377.1:c.1907C>T ENSP00000513286.1:p.Ser636Phe
ENST00000697378.1:n.3474C>T
ENST00000697379.1:c.2069C>T ENSP00000513287.1:p.Ser690Phe
ENST00000697380.1:n.2246C>T
ENST00000697381.1:n.1649C>T
ENST00000697382.1:c.2069C>T ENSP00000513288.1:p.Ser690Phe
ENST00000697383.1:c.488C>T ENSP00000513289.1:p.Ser163Phe
ENST00000261584.9:c.2954C>T MANE Select ENSP00000261584.4:p.Ser985Phe
ENST00000261584.8:c.2954C>T ENSP00000261584.4:p.Ser985Phe
ENST00000568219.5:c.2069C>T ENSP00000454703.2:p.Ser690Phe
NM_024675.3:c.2954C>T , LRG_308t1:c.2954C>T NP_078951.2:p.Ser985Phe
XM_011545946.1:c.2960C>T XP_011544248.1:p.Ser987Phe
XM_011545947.1:c.2960C>T XP_011544249.1:p.Ser987Phe
XM_011545948.1:c.2069C>T XP_011544250.1:p.Ser690Phe
XR_950851.1:n.3750C>T
XM_011545946.2:c.2960C>T XP_011544248.1:p.Ser987Phe
XM_011545947.2:c.2960C>T XP_011544249.1:p.Ser987Phe
XM_011545948.2:c.2069C>T XP_011544250.1:p.Ser690Phe
XM_017023671.1:c.2960C>T XP_016879160.1:p.Ser987Phe
XM_017023672.2:c.2954C>T XP_016879161.1:p.Ser985Phe
XM_017023673.2:c.2954C>T XP_016879162.1:p.Ser985Phe
NM_024675.4:c.2954C>T MANE Select NP_078951.2:p.Ser985Phe