Canonical Allele Identifier: CA395141418
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 480290
dbSNP Id: rs766394024

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23614075G>A , CM000678.2:g.23614075G>A GRCh38
NC_000016.9:g.23625396G>A , CM000678.1:g.23625396G>A GRCh37
NC_000016.8:g.23532897G>A NCBI36
NG_007406.1:g.32283C>T , LRG_308:g.32283C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3136C>T ENSP00000460666.3:p.Gln1046Ter
ENST00000565038.2:c.*611C>T ENSP00000459882.2:n.*611C>T
ENST00000566069.6:c.3130C>T ENSP00000459237.2:p.Gln1044Ter
ENST00000697377.2:c.2974C>T ENSP00000513286.2:p.Gln992Ter
ENST00000697379.2:c.3136C>T ENSP00000513287.2:p.Gln1046Ter
ENST00000561514.2:c.2245C>T ENSP00000460666.2:p.Gln749Ter
ENST00000697374.1:c.2245C>T ENSP00000513284.1:p.Gln749Ter
ENST00000697375.1:n.4477C>T
ENST00000697376.1:c.2245C>T ENSP00000513285.1:p.Gln749Ter
ENST00000697377.1:c.2083C>T ENSP00000513286.1:p.Gln695Ter
ENST00000697378.1:n.3650C>T
ENST00000697379.1:c.2245C>T ENSP00000513287.1:p.Gln749Ter
ENST00000697380.1:n.2406-6063C>T
ENST00000697381.1:n.1825C>T
ENST00000697382.1:c.2229-6063C>T ENSP00000513288.1:n.2229-6063C>T
ENST00000697383.1:c.664C>T ENSP00000513289.1:p.Gln222Ter
ENST00000261584.9:c.3130C>T MANE Select ENSP00000261584.4:p.Gln1044Ter
ENST00000261584.8:c.3130C>T ENSP00000261584.4:p.Gln1044Ter
ENST00000566069.5:c.45C>T
ENST00000568219.5:c.2245C>T ENSP00000454703.2:p.Gln749Ter
NM_024675.3:c.3130C>T , LRG_308t1:c.3130C>T NP_078951.2:p.Gln1044Ter
XM_011545946.1:c.3136C>T XP_011544248.1:p.Gln1046Ter
XM_011545947.1:c.3136C>T XP_011544249.1:p.Gln1046Ter
XM_011545948.1:c.2245C>T XP_011544250.1:p.Gln749Ter
XR_950851.1:n.3910-6063C>T
XM_011545946.2:c.3136C>T XP_011544248.1:p.Gln1046Ter
XM_011545947.2:c.3136C>T XP_011544249.1:p.Gln1046Ter
XM_011545948.2:c.2245C>T XP_011544250.1:p.Gln749Ter
XM_017023671.1:c.3119+7287C>T XP_016879160.1:n.3119+7287C>T
XM_017023672.2:c.3113+7287C>T XP_016879161.1:n.3113+7287C>T
XM_017023673.2:c.3130C>T XP_016879162.1:p.Gln1044Ter
NM_024675.4:c.3130C>T MANE Select NP_078951.2:p.Gln1044Ter