Canonical Allele Identifier: CA395137646
Gene: PALB2 HGNC NCBI

Linked Data

dbSNP Id: rs770692850
COSMIC: COSM702975

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603470G>T , CM000678.2:g.23603470G>T GRCh38
NC_000016.9:g.23614791G>T , CM000678.1:g.23614791G>T GRCh37
NC_000016.8:g.23522292G>T NCBI36
NG_007406.1:g.42888C>A , LRG_308:g.42888C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3556C>A ENSP00000460666.3:p.His1186Asn
ENST00000565038.2:c.*1035C>A ENSP00000459882.2:n.*1035C>A
ENST00000566069.6:c.*185C>A ENSP00000459237.2:n.*185C>A
ENST00000697377.2:c.3394C>A ENSP00000513286.2:p.His1132Asn
ENST00000697379.2:c.3556C>A ENSP00000513287.2:p.His1186Asn
ENST00000561514.2:c.2665C>A ENSP00000460666.2:p.His889Asn
ENST00000697374.1:c.2665C>A ENSP00000513284.1:p.His889Asn
ENST00000697375.1:n.4897C>A
ENST00000697376.1:c.*185C>A ENSP00000513285.1:n.*185C>A
ENST00000697377.1:c.2503C>A ENSP00000513286.1:p.His835Asn
ENST00000697378.1:n.4070C>A
ENST00000697379.1:c.2665C>A ENSP00000513287.1:p.His889Asn
ENST00000697380.1:n.2754C>A
ENST00000697381.1:n.2245C>A
ENST00000697382.1:c.*327C>A ENSP00000513288.1:n.*327C>A
ENST00000697383.1:c.1084C>A ENSP00000513289.1:p.His362Asn
ENST00000261584.9:c.3550C>A MANE Select ENSP00000261584.4:p.His1184Asn
ENST00000261584.8:c.3550C>A ENSP00000261584.4:p.His1184Asn
ENST00000566069.5:c.316C>A
ENST00000568219.5:c.2665C>A ENSP00000454703.2:p.His889Asn
NM_024675.3:c.3550C>A , LRG_308t1:c.3550C>A NP_078951.2:p.His1184Asn
XM_011545946.1:c.3556C>A XP_011544248.1:p.His1186Asn
XM_011545947.1:c.*185C>A XP_011544249.1:n.*185C>A
XM_011545948.1:c.2665C>A XP_011544250.1:p.His889Asn
XR_950851.1:n.4258C>A
XM_011545946.2:c.3556C>A XP_011544248.1:p.His1186Asn
XM_011545947.2:c.*185C>A XP_011544249.1:n.*185C>A
XM_011545948.2:c.2665C>A XP_011544250.1:p.His889Asn
XM_017023671.1:c.3319C>A XP_016879160.1:p.His1107Asn
XM_017023672.2:c.3313C>A XP_016879161.1:p.His1105Asn
XM_017023673.2:c.*185C>A XP_016879162.1:n.*185C>A
NM_024675.4:c.3550C>A MANE Select NP_078951.2:p.His1184Asn