Canonical Allele Identifier: CA299700
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 182757
dbSNP Id: rs730881879

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23636336T>C , CM000678.2:g.23636336T>C GRCh38
NC_000016.9:g.23647657T>C , CM000678.1:g.23647657T>C GRCh37
NC_000016.8:g.23555158T>C NCBI36
NG_007406.1:g.10022A>G , LRG_308:g.10022A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.218-2A>G ENSP00000460666.3:n.218-2A>G
ENST00000565038.2:c.211+1514A>G ENSP00000459882.2:n.211+1514A>G
ENST00000566069.6:c.212-2A>G ENSP00000459237.2:n.212-2A>G
ENST00000697377.2:c.218-2A>G ENSP00000513286.2:n.218-2A>G
ENST00000697379.2:c.218-2A>G ENSP00000513287.2:n.218-2A>G
ENST00000561514.2:c.-674-2A>G ENSP00000460666.2:n.-674-2A>G
ENST00000697374.1:c.-674-2A>G ENSP00000513284.1:n.-674-2A>G
ENST00000697375.1:n.1559-2A>G
ENST00000697376.1:c.-674-2A>G ENSP00000513285.1:n.-674-2A>G
ENST00000697377.1:c.-674-2A>G ENSP00000513286.1:n.-674-2A>G
ENST00000697378.1:n.732-2A>G
ENST00000697379.1:c.-674-2A>G ENSP00000513287.1:n.-674-2A>G
ENST00000697382.1:c.-674-2A>G ENSP00000513288.1:n.-674-2A>G
ENST00000697383.1:c.48+4774A>G ENSP00000513289.1:n.48+4774A>G
ENST00000697384.1:n.366-2A>G
ENST00000261584.9:c.212-2A>G MANE Select ENSP00000261584.4:n.212-2A>G
ENST00000261584.8:c.212-2A>G ENSP00000261584.4:n.212-2A>G
ENST00000561514.1:c.218-2A>G ENSP00000460666.1:n.218-2A>G
ENST00000565038.1:c.86+1514A>G
ENST00000567003.1:n.490-2A>G
ENST00000568219.5:c.-674-2A>G ENSP00000454703.2:n.-674-2A>G
NM_024675.3:c.212-2A>G , LRG_308t1:c.212-2A>G NP_078951.2:n.212-2A>G
XM_011545946.1:c.218-2A>G XP_011544248.1:n.218-2A>G
XM_011545947.1:c.218-2A>G XP_011544249.1:n.218-2A>G
XM_011545948.1:c.-674-2A>G XP_011544250.1:n.-674-2A>G
XR_950851.1:n.1008-2A>G
XM_011545946.2:c.218-2A>G XP_011544248.1:n.218-2A>G
XM_011545947.2:c.218-2A>G XP_011544249.1:n.218-2A>G
XM_011545948.2:c.-674-2A>G XP_011544250.1:n.-674-2A>G
XM_017023671.1:c.218-2A>G XP_016879160.1:n.218-2A>G
XM_017023672.2:c.212-2A>G XP_016879161.1:n.212-2A>G
XM_017023673.2:c.212-2A>G XP_016879162.1:n.212-2A>G
NM_024675.4:c.212-2A>G MANE Select NP_078951.2:n.212-2A>G