Canonical Allele Identifier: CA395143071
Gene: PALB2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621441T>C , CM000678.2:g.23621441T>C GRCh38
NC_000016.9:g.23632762T>C , CM000678.1:g.23632762T>C GRCh37
NC_000016.8:g.23540263T>C NCBI36
NG_007406.1:g.24917A>G , LRG_308:g.24917A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3040A>G ENSP00000460666.3:p.Thr1014Ala
ENST00000565038.2:c.*515A>G ENSP00000459882.2:n.*515A>G
ENST00000566069.6:c.3034A>G ENSP00000459237.2:p.Thr1012Ala
ENST00000697377.2:c.2878A>G ENSP00000513286.2:p.Thr960Ala
ENST00000697379.2:c.3040A>G ENSP00000513287.2:p.Thr1014Ala
ENST00000561514.2:c.2149A>G ENSP00000460666.2:p.Thr717Ala
ENST00000697374.1:c.2149A>G ENSP00000513284.1:p.Thr717Ala
ENST00000697375.1:n.4381A>G
ENST00000697376.1:c.2149A>G ENSP00000513285.1:p.Thr717Ala
ENST00000697377.1:c.1987A>G ENSP00000513286.1:p.Thr663Ala
ENST00000697378.1:n.3554A>G
ENST00000697379.1:c.2149A>G ENSP00000513287.1:p.Thr717Ala
ENST00000697380.1:n.2326A>G
ENST00000697381.1:n.1729A>G
ENST00000697382.1:c.2149A>G ENSP00000513288.1:p.Thr717Ala
ENST00000697383.1:c.568A>G ENSP00000513289.1:p.Thr190Ala
ENST00000261584.9:c.3034A>G MANE Select ENSP00000261584.4:p.Thr1012Ala
ENST00000261584.8:c.3034A>G ENSP00000261584.4:p.Thr1012Ala
ENST00000568219.5:c.2149A>G ENSP00000454703.2:p.Thr717Ala
NM_024675.3:c.3034A>G , LRG_308t1:c.3034A>G NP_078951.2:p.Thr1012Ala
XM_011545946.1:c.3040A>G XP_011544248.1:p.Thr1014Ala
XM_011545947.1:c.3040A>G XP_011544249.1:p.Thr1014Ala
XM_011545948.1:c.2149A>G XP_011544250.1:p.Thr717Ala
XR_950851.1:n.3830A>G
XM_011545946.2:c.3040A>G XP_011544248.1:p.Thr1014Ala
XM_011545947.2:c.3040A>G XP_011544249.1:p.Thr1014Ala
XM_011545948.2:c.2149A>G XP_011544250.1:p.Thr717Ala
XM_017023671.1:c.3040A>G XP_016879160.1:p.Thr1014Ala
XM_017023672.2:c.3034A>G XP_016879161.1:p.Thr1012Ala
XM_017023673.2:c.3034A>G XP_016879162.1:p.Thr1012Ala
NM_024675.4:c.3034A>G MANE Select NP_078951.2:p.Thr1012Ala