Canonical Allele Identifier: CA395144029
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2960C>A ENSP00000460666.3:p.Ser987Tyr
ENST00000565038.2:c.*435C>A ENSP00000459882.2:n.*435C>A
ENST00000566069.6:c.2954C>A ENSP00000459237.2:p.Ser985Tyr
ENST00000697377.2:c.2798C>A ENSP00000513286.2:p.Ser933Tyr
ENST00000697379.2:c.2960C>A ENSP00000513287.2:p.Ser987Tyr
ENST00000561514.2:c.2069C>A ENSP00000460666.2:p.Ser690Tyr
ENST00000697374.1:c.2069C>A ENSP00000513284.1:p.Ser690Tyr
ENST00000697375.1:n.4301C>A
ENST00000697376.1:c.2069C>A ENSP00000513285.1:p.Ser690Tyr
ENST00000697377.1:c.1907C>A ENSP00000513286.1:p.Ser636Tyr
ENST00000697378.1:n.3474C>A
ENST00000697379.1:c.2069C>A ENSP00000513287.1:p.Ser690Tyr
ENST00000697380.1:n.2246C>A
ENST00000697381.1:n.1649C>A
ENST00000697382.1:c.2069C>A ENSP00000513288.1:p.Ser690Tyr
ENST00000697383.1:c.488C>A ENSP00000513289.1:p.Ser163Tyr
ENST00000261584.9:c.2954C>A MANE Select ENSP00000261584.4:p.Ser985Tyr
ENST00000261584.8:c.2954C>A ENSP00000261584.4:p.Ser985Tyr
ENST00000568219.5:c.2069C>A ENSP00000454703.2:p.Ser690Tyr
NM_024675.3:c.2954C>A , LRG_308t1:c.2954C>A NP_078951.2:p.Ser985Tyr
XM_011545946.1:c.2960C>A XP_011544248.1:p.Ser987Tyr
XM_011545947.1:c.2960C>A XP_011544249.1:p.Ser987Tyr
XM_011545948.1:c.2069C>A XP_011544250.1:p.Ser690Tyr
XR_950851.1:n.3750C>A
XM_011545946.2:c.2960C>A XP_011544248.1:p.Ser987Tyr
XM_011545947.2:c.2960C>A XP_011544249.1:p.Ser987Tyr
XM_011545948.2:c.2069C>A XP_011544250.1:p.Ser690Tyr
XM_017023671.1:c.2960C>A XP_016879160.1:p.Ser987Tyr
XM_017023672.2:c.2954C>A XP_016879161.1:p.Ser985Tyr
XM_017023673.2:c.2954C>A XP_016879162.1:p.Ser985Tyr
NM_024675.4:c.2954C>A MANE Select NP_078951.2:p.Ser985Tyr