Canonical Allele Identifier: CA10579936
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 233356
dbSNP Id: rs761032954

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621440G>C , CM000678.2:g.23621440G>C GRCh38
NC_000016.9:g.23632761G>C , CM000678.1:g.23632761G>C GRCh37
NC_000016.8:g.23540262G>C NCBI36
NG_007406.1:g.24918C>G , LRG_308:g.24918C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3041C>G ENSP00000460666.3:p.Thr1014Ser
ENST00000565038.2:c.*516C>G ENSP00000459882.2:n.*516C>G
ENST00000566069.6:c.3035C>G ENSP00000459237.2:p.Thr1012Ser
ENST00000697377.2:c.2879C>G ENSP00000513286.2:p.Thr960Ser
ENST00000697379.2:c.3041C>G ENSP00000513287.2:p.Thr1014Ser
ENST00000561514.2:c.2150C>G ENSP00000460666.2:p.Thr717Ser
ENST00000697374.1:c.2150C>G ENSP00000513284.1:p.Thr717Ser
ENST00000697375.1:n.4382C>G
ENST00000697376.1:c.2150C>G ENSP00000513285.1:p.Thr717Ser
ENST00000697377.1:c.1988C>G ENSP00000513286.1:p.Thr663Ser
ENST00000697378.1:n.3555C>G
ENST00000697379.1:c.2150C>G ENSP00000513287.1:p.Thr717Ser
ENST00000697380.1:n.2327C>G
ENST00000697381.1:n.1730C>G
ENST00000697382.1:c.2150C>G ENSP00000513288.1:p.Thr717Ser
ENST00000697383.1:c.569C>G ENSP00000513289.1:p.Thr190Ser
ENST00000261584.9:c.3035C>G MANE Select ENSP00000261584.4:p.Thr1012Ser
ENST00000261584.8:c.3035C>G ENSP00000261584.4:p.Thr1012Ser
ENST00000568219.5:c.2150C>G ENSP00000454703.2:p.Thr717Ser
NM_024675.3:c.3035C>G , LRG_308t1:c.3035C>G NP_078951.2:p.Thr1012Ser
XM_011545946.1:c.3041C>G XP_011544248.1:p.Thr1014Ser
XM_011545947.1:c.3041C>G XP_011544249.1:p.Thr1014Ser
XM_011545948.1:c.2150C>G XP_011544250.1:p.Thr717Ser
XR_950851.1:n.3831C>G
XM_011545946.2:c.3041C>G XP_011544248.1:p.Thr1014Ser
XM_011545947.2:c.3041C>G XP_011544249.1:p.Thr1014Ser
XM_011545948.2:c.2150C>G XP_011544250.1:p.Thr717Ser
XM_017023671.1:c.3041C>G XP_016879160.1:p.Thr1014Ser
XM_017023672.2:c.3035C>G XP_016879161.1:p.Thr1012Ser
XM_017023673.2:c.3035C>G XP_016879162.1:p.Thr1012Ser
NM_024675.4:c.3035C>G MANE Select NP_078951.2:p.Thr1012Ser