Canonical Allele Identifier: CA395137567
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23603459T>G , CM000678.2:g.23603459T>G GRCh38
NC_000016.9:g.23614780T>G , CM000678.1:g.23614780T>G GRCh37
NC_000016.8:g.23522281T>G NCBI36
NG_007406.1:g.42899A>C , LRG_308:g.42899A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3567A>C ENSP00000460666.3:p.Ter1189Tyr
ENST00000565038.2:c.*1046A>C ENSP00000459882.2:n.*1046A>C
ENST00000566069.6:c.*196A>C ENSP00000459237.2:n.*196A>C
ENST00000697377.2:c.3405A>C ENSP00000513286.2:p.Ter1135Tyr
ENST00000697379.2:c.3567A>C ENSP00000513287.2:p.Ter1189Tyr
ENST00000561514.2:c.2676A>C ENSP00000460666.2:p.Ter892Tyr
ENST00000697374.1:c.2676A>C ENSP00000513284.1:p.Ter892Tyr
ENST00000697375.1:n.4908A>C
ENST00000697376.1:c.*196A>C ENSP00000513285.1:n.*196A>C
ENST00000697377.1:c.2514A>C ENSP00000513286.1:p.Ter838Tyr
ENST00000697378.1:n.4081A>C
ENST00000697379.1:c.2676A>C ENSP00000513287.1:p.Ter892Tyr
ENST00000697380.1:n.2765A>C
ENST00000697381.1:n.2256A>C
ENST00000697382.1:c.*338A>C ENSP00000513288.1:n.*338A>C
ENST00000697383.1:c.1095A>C ENSP00000513289.1:p.Ter365Tyr
ENST00000261584.9:c.3561A>C MANE Select ENSP00000261584.4:p.Ter1187Tyr
ENST00000261584.8:c.3561A>C ENSP00000261584.4:p.Ter1187Tyr
ENST00000566069.5:c.327A>C
ENST00000568219.5:c.2676A>C ENSP00000454703.2:p.Ter892Tyr
NM_024675.3:c.3561A>C , LRG_308t1:c.3561A>C NP_078951.2:p.Ter1187Tyr
XM_011545946.1:c.3567A>C XP_011544248.1:p.Ter1189Tyr
XM_011545947.1:c.*196A>C XP_011544249.1:n.*196A>C
XM_011545948.1:c.2676A>C XP_011544250.1:p.Ter892Tyr
XR_950851.1:n.4269A>C
XM_011545946.2:c.3567A>C XP_011544248.1:p.Ter1189Tyr
XM_011545947.2:c.*196A>C XP_011544249.1:n.*196A>C
XM_011545948.2:c.2676A>C XP_011544250.1:p.Ter892Tyr
XM_017023671.1:c.3330A>C XP_016879160.1:p.Ter1110Tyr
XM_017023672.2:c.3324A>C XP_016879161.1:p.Ter1108Tyr
XM_017023673.2:c.*196A>C XP_016879162.1:n.*196A>C
NM_024675.4:c.3561A>C MANE Select NP_078951.2:p.Ter1187Tyr