Canonical Allele Identifier: CA10579954
Gene: PALB2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626291C>T , CM000678.2:g.23626291C>T GRCh38
NC_000016.9:g.23637612C>T , CM000678.1:g.23637612C>T GRCh37
NC_000016.8:g.23545113C>T NCBI36
NG_007406.1:g.20067G>A , LRG_308:g.20067G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2699G>A ENSP00000460666.3:p.Trp900Ter
ENST00000565038.2:c.*174G>A ENSP00000459882.2:n.*174G>A
ENST00000566069.6:c.2693G>A ENSP00000459237.2:p.Trp898Ter
ENST00000697377.2:c.2593-2197G>A ENSP00000513286.2:n.2593-2197G>A
ENST00000697379.2:c.2699G>A ENSP00000513287.2:p.Trp900Ter
ENST00000561514.2:c.1808G>A ENSP00000460666.2:p.Trp603Ter
ENST00000697374.1:c.1808G>A ENSP00000513284.1:p.Trp603Ter
ENST00000697375.1:n.4040G>A
ENST00000697376.1:c.1808G>A ENSP00000513285.1:p.Trp603Ter
ENST00000697377.1:c.1702-2197G>A ENSP00000513286.1:n.1702-2197G>A
ENST00000697378.1:n.3213G>A
ENST00000697379.1:c.1808G>A ENSP00000513287.1:p.Trp603Ter
ENST00000697380.1:n.1985G>A
ENST00000697381.1:n.1388G>A
ENST00000697382.1:c.1808G>A ENSP00000513288.1:p.Trp603Ter
ENST00000697383.1:c.227G>A ENSP00000513289.1:p.Trp76Ter
ENST00000261584.9:c.2693G>A MANE Select ENSP00000261584.4:p.Trp898Ter
ENST00000261584.8:c.2693G>A ENSP00000261584.4:p.Trp898Ter
ENST00000565038.1:c.265G>A
ENST00000568219.5:c.1808G>A ENSP00000454703.2:p.Trp603Ter
NM_024675.3:c.2693G>A , LRG_308t1:c.2693G>A NP_078951.2:p.Trp898Ter
XM_011545946.1:c.2699G>A XP_011544248.1:p.Trp900Ter
XM_011545947.1:c.2699G>A XP_011544249.1:p.Trp900Ter
XM_011545948.1:c.1808G>A XP_011544250.1:p.Trp603Ter
XR_950851.1:n.3489G>A
XM_011545946.2:c.2699G>A XP_011544248.1:p.Trp900Ter
XM_011545947.2:c.2699G>A XP_011544249.1:p.Trp900Ter
XM_011545948.2:c.1808G>A XP_011544250.1:p.Trp603Ter
XM_017023671.1:c.2699G>A XP_016879160.1:p.Trp900Ter
XM_017023672.2:c.2693G>A XP_016879161.1:p.Trp898Ter
XM_017023673.2:c.2693G>A XP_016879162.1:p.Trp898Ter
NM_024675.4:c.2693G>A MANE Select NP_078951.2:p.Trp898Ter
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