Canonical Allele Identifier: CA395145033
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs1966825680

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23624054T>A , CM000678.2:g.23624054T>A GRCh38
NC_000016.9:g.23635375T>A , CM000678.1:g.23635375T>A GRCh37
NC_000016.8:g.23542876T>A NCBI36
NG_007406.1:g.22304A>T , LRG_308:g.22304A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.2795A>T ENSP00000460666.3:p.Asn932Ile
ENST00000565038.2:c.*270A>T ENSP00000459882.2:n.*270A>T
ENST00000566069.6:c.2789A>T ENSP00000459237.2:p.Asn930Ile
ENST00000697377.2:c.2633A>T ENSP00000513286.2:p.Asn878Ile
ENST00000697379.2:c.2795A>T ENSP00000513287.2:p.Asn932Ile
ENST00000561514.2:c.1904A>T ENSP00000460666.2:p.Asn635Ile
ENST00000697374.1:c.1904A>T ENSP00000513284.1:p.Asn635Ile
ENST00000697375.1:n.4136A>T
ENST00000697376.1:c.1904A>T ENSP00000513285.1:p.Asn635Ile
ENST00000697377.1:c.1742A>T ENSP00000513286.1:p.Asn581Ile
ENST00000697378.1:n.3309A>T
ENST00000697379.1:c.1904A>T ENSP00000513287.1:p.Asn635Ile
ENST00000697380.1:n.2081A>T
ENST00000697381.1:n.1484A>T
ENST00000697382.1:c.1904A>T ENSP00000513288.1:p.Asn635Ile
ENST00000697383.1:c.323A>T ENSP00000513289.1:p.Asn108Ile
ENST00000261584.9:c.2789A>T MANE Select ENSP00000261584.4:p.Asn930Ile
ENST00000261584.8:c.2789A>T ENSP00000261584.4:p.Asn930Ile
ENST00000568219.5:c.1904A>T ENSP00000454703.2:p.Asn635Ile
NM_024675.3:c.2789A>T , LRG_308t1:c.2789A>T NP_078951.2:p.Asn930Ile
XM_011545946.1:c.2795A>T XP_011544248.1:p.Asn932Ile
XM_011545947.1:c.2795A>T XP_011544249.1:p.Asn932Ile
XM_011545948.1:c.1904A>T XP_011544250.1:p.Asn635Ile
XR_950851.1:n.3585A>T
XM_011545946.2:c.2795A>T XP_011544248.1:p.Asn932Ile
XM_011545947.2:c.2795A>T XP_011544249.1:p.Asn932Ile
XM_011545948.2:c.1904A>T XP_011544250.1:p.Asn635Ile
XM_017023671.1:c.2795A>T XP_016879160.1:p.Asn932Ile
XM_017023672.2:c.2789A>T XP_016879161.1:p.Asn930Ile
XM_017023673.2:c.2789A>T XP_016879162.1:p.Asn930Ile
NM_024675.4:c.2789A>T MANE Select NP_078951.2:p.Asn930Ile