Canonical Allele Identifier: CA395139801
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2453309
ClinVar RCV Id: RCV003182764
dbSNP Id: rs780524136

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23607960A>T , CM000678.2:g.23607960A>T GRCh38
NC_000016.9:g.23619281A>T , CM000678.1:g.23619281A>T GRCh37
NC_000016.8:g.23526782A>T NCBI36
NG_007406.1:g.38398T>A , LRG_308:g.38398T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.3260T>A ENSP00000460666.3:p.Leu1087Ter
ENST00000565038.2:c.*735T>A ENSP00000459882.2:n.*735T>A
ENST00000566069.6:c.3202-4291T>A ENSP00000459237.2:n.3202-4291T>A
ENST00000697377.2:c.3098T>A ENSP00000513286.2:p.Leu1033Ter
ENST00000697379.2:c.3260T>A ENSP00000513287.2:p.Leu1087Ter
ENST00000561514.2:c.2369T>A ENSP00000460666.2:p.Leu790Ter
ENST00000697374.1:c.2369T>A ENSP00000513284.1:p.Leu790Ter
ENST00000697375.1:n.4601T>A
ENST00000697376.1:c.2317-4291T>A ENSP00000513285.1:n.2317-4291T>A
ENST00000697377.1:c.2207T>A ENSP00000513286.1:p.Leu736Ter
ENST00000697378.1:n.3774T>A
ENST00000697379.1:c.2369T>A ENSP00000513287.1:p.Leu790Ter
ENST00000697380.1:n.2458T>A
ENST00000697381.1:n.1949T>A
ENST00000697382.1:c.*31T>A ENSP00000513288.1:n.*31T>A
ENST00000697383.1:c.788T>A ENSP00000513289.1:p.Leu263Ter
ENST00000261584.9:c.3254T>A MANE Select ENSP00000261584.4:p.Leu1085Ter
ENST00000261584.8:c.3254T>A ENSP00000261584.4:p.Leu1085Ter
ENST00000566069.5:c.117-4291T>A
ENST00000568219.5:c.2369T>A ENSP00000454703.2:p.Leu790Ter
NM_024675.3:c.3254T>A , LRG_308t1:c.3254T>A NP_078951.2:p.Leu1085Ter
XM_011545946.1:c.3260T>A XP_011544248.1:p.Leu1087Ter
XM_011545947.1:c.3208-4291T>A XP_011544249.1:n.3208-4291T>A
XM_011545948.1:c.2369T>A XP_011544250.1:p.Leu790Ter
XR_950851.1:n.3962T>A
XM_011545946.2:c.3260T>A XP_011544248.1:p.Leu1087Ter
XM_011545947.2:c.3208-4291T>A XP_011544249.1:n.3208-4291T>A
XM_011545948.2:c.2369T>A XP_011544250.1:p.Leu790Ter
XM_017023671.1:c.3120-4291T>A XP_016879160.1:n.3120-4291T>A
XM_017023672.2:c.3114-4291T>A XP_016879161.1:n.3114-4291T>A
XM_017023673.2:c.3202-4291T>A XP_016879162.1:n.3202-4291T>A
NM_024675.4:c.3254T>A MANE Select NP_078951.2:p.Leu1085Ter