Canonical Allele Identifier: CA395134860
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23635574A>T , CM000678.2:g.23635574A>T GRCh38
NC_000016.9:g.23646895A>T , CM000678.1:g.23646895A>T GRCh37
NC_000016.8:g.23554396A>T NCBI36
NG_007406.1:g.10784T>A , LRG_308:g.10784T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.978T>A ENSP00000460666.3:p.Asn326Lys
ENST00000565038.2:c.211+2276T>A ENSP00000459882.2:n.211+2276T>A
ENST00000566069.6:c.972T>A ENSP00000459237.2:p.Asn324Lys
ENST00000697377.2:c.978T>A ENSP00000513286.2:p.Asn326Lys
ENST00000697379.2:c.978T>A ENSP00000513287.2:p.Asn326Lys
ENST00000561514.2:c.87T>A ENSP00000460666.2:p.Asn29Lys
ENST00000697374.1:c.87T>A ENSP00000513284.1:p.Asn29Lys
ENST00000697375.1:n.2319T>A
ENST00000697376.1:c.87T>A ENSP00000513285.1:p.Asn29Lys
ENST00000697377.1:c.87T>A ENSP00000513286.1:p.Asn29Lys
ENST00000697378.1:n.1492T>A
ENST00000697379.1:c.87T>A ENSP00000513287.1:p.Asn29Lys
ENST00000697382.1:c.87T>A ENSP00000513288.1:p.Asn29Lys
ENST00000697383.1:c.48+5536T>A ENSP00000513289.1:n.48+5536T>A
ENST00000697384.1:n.1126T>A
ENST00000261584.9:c.972T>A MANE Select ENSP00000261584.4:p.Asn324Lys
ENST00000261584.8:c.972T>A ENSP00000261584.4:p.Asn324Lys
ENST00000565038.1:c.86+2276T>A
ENST00000568219.5:c.87T>A ENSP00000454703.2:p.Asn29Lys
NM_024675.3:c.972T>A , LRG_308t1:c.972T>A NP_078951.2:p.Asn324Lys
XM_011545946.1:c.978T>A XP_011544248.1:p.Asn326Lys
XM_011545947.1:c.978T>A XP_011544249.1:p.Asn326Lys
XM_011545948.1:c.87T>A XP_011544250.1:p.Asn29Lys
XR_950851.1:n.1768T>A
XM_011545946.2:c.978T>A XP_011544248.1:p.Asn326Lys
XM_011545947.2:c.978T>A XP_011544249.1:p.Asn326Lys
XM_011545948.2:c.87T>A XP_011544250.1:p.Asn29Lys
XM_017023671.1:c.978T>A XP_016879160.1:p.Asn326Lys
XM_017023672.2:c.972T>A XP_016879161.1:p.Asn324Lys
XM_017023673.2:c.972T>A XP_016879162.1:p.Asn324Lys
NM_024675.4:c.972T>A MANE Select NP_078951.2:p.Asn324Lys