Canonical Allele Identifier: CA395137575
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603460T>G , CM000678.2:g.23603460T>G GRCh38
NC_000016.9:g.23614781T>G , CM000678.1:g.23614781T>G GRCh37
NC_000016.8:g.23522282T>G NCBI36
NG_007406.1:g.42898A>C , LRG_308:g.42898A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3566A>C ENSP00000460666.3:p.Ter1189Ser
ENST00000565038.2:c.*1045A>C ENSP00000459882.2:n.*1045A>C
ENST00000566069.6:c.*195A>C ENSP00000459237.2:n.*195A>C
ENST00000697377.2:c.3404A>C ENSP00000513286.2:p.Ter1135Ser
ENST00000697379.2:c.3566A>C ENSP00000513287.2:p.Ter1189Ser
ENST00000561514.2:c.2675A>C ENSP00000460666.2:p.Ter892Ser
ENST00000697374.1:c.2675A>C ENSP00000513284.1:p.Ter892Ser
ENST00000697375.1:n.4907A>C
ENST00000697376.1:c.*195A>C ENSP00000513285.1:n.*195A>C
ENST00000697377.1:c.2513A>C ENSP00000513286.1:p.Ter838Ser
ENST00000697378.1:n.4080A>C
ENST00000697379.1:c.2675A>C ENSP00000513287.1:p.Ter892Ser
ENST00000697380.1:n.2764A>C
ENST00000697381.1:n.2255A>C
ENST00000697382.1:c.*337A>C ENSP00000513288.1:n.*337A>C
ENST00000697383.1:c.1094A>C ENSP00000513289.1:p.Ter365Ser
ENST00000261584.9:c.3560A>C MANE Select ENSP00000261584.4:p.Ter1187Ser
ENST00000261584.8:c.3560A>C ENSP00000261584.4:p.Ter1187Ser
ENST00000566069.5:c.326A>C
ENST00000568219.5:c.2675A>C ENSP00000454703.2:p.Ter892Ser
NM_024675.3:c.3560A>C , LRG_308t1:c.3560A>C NP_078951.2:p.Ter1187Ser
XM_011545946.1:c.3566A>C XP_011544248.1:p.Ter1189Ser
XM_011545947.1:c.*195A>C XP_011544249.1:n.*195A>C
XM_011545948.1:c.2675A>C XP_011544250.1:p.Ter892Ser
XR_950851.1:n.4268A>C
XM_011545946.2:c.3566A>C XP_011544248.1:p.Ter1189Ser
XM_011545947.2:c.*195A>C XP_011544249.1:n.*195A>C
XM_011545948.2:c.2675A>C XP_011544250.1:p.Ter892Ser
XM_017023671.1:c.3329A>C XP_016879160.1:p.Ter1110Ser
XM_017023672.2:c.3323A>C XP_016879161.1:p.Ter1108Ser
XM_017023673.2:c.*195A>C XP_016879162.1:n.*195A>C
NM_024675.4:c.3560A>C MANE Select NP_078951.2:p.Ter1187Ser