Canonical Allele Identifier: CA395127427
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 943934
ClinVar RCV Id: RCV001214223
dbSNP Id: rs1966863129

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23630212G>A , CM000678.2:g.23630212G>A GRCh38
NC_000016.9:g.23641533G>A , CM000678.1:g.23641533G>A GRCh37
NC_000016.8:g.23549034G>A NCBI36
NG_007406.1:g.16146C>T , LRG_308:g.16146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.1948C>T ENSP00000460666.3:p.Leu650Phe
ENST00000565038.2:c.212-937C>T ENSP00000459882.2:n.212-937C>T
ENST00000566069.6:c.1942C>T ENSP00000459237.2:p.Leu648Phe
ENST00000697377.2:c.1948C>T ENSP00000513286.2:p.Leu650Phe
ENST00000697379.2:c.1948C>T ENSP00000513287.2:p.Leu650Phe
ENST00000561514.2:c.1057C>T ENSP00000460666.2:p.Leu353Phe
ENST00000697374.1:c.1057C>T ENSP00000513284.1:p.Leu353Phe
ENST00000697375.1:n.3289C>T
ENST00000697376.1:c.1057C>T ENSP00000513285.1:p.Leu353Phe
ENST00000697377.1:c.1057C>T ENSP00000513286.1:p.Leu353Phe
ENST00000697378.1:n.2462C>T
ENST00000697379.1:c.1057C>T ENSP00000513287.1:p.Leu353Phe
ENST00000697380.1:n.870C>T
ENST00000697381.1:n.637C>T
ENST00000697382.1:c.1057C>T ENSP00000513288.1:p.Leu353Phe
ENST00000697383.1:c.49-937C>T ENSP00000513289.1:n.49-937C>T
ENST00000697384.1:n.2096C>T
ENST00000261584.9:c.1942C>T MANE Select ENSP00000261584.4:p.Leu648Phe
ENST00000261584.8:c.1942C>T ENSP00000261584.4:p.Leu648Phe
ENST00000565038.1:c.87-937C>T
ENST00000568219.5:c.1057C>T ENSP00000454703.2:p.Leu353Phe
NM_024675.3:c.1942C>T , LRG_308t1:c.1942C>T NP_078951.2:p.Leu648Phe
XM_011545946.1:c.1948C>T XP_011544248.1:p.Leu650Phe
XM_011545947.1:c.1948C>T XP_011544249.1:p.Leu650Phe
XM_011545948.1:c.1057C>T XP_011544250.1:p.Leu353Phe
XR_950851.1:n.2738C>T
XM_011545946.2:c.1948C>T XP_011544248.1:p.Leu650Phe
XM_011545947.2:c.1948C>T XP_011544249.1:p.Leu650Phe
XM_011545948.2:c.1057C>T XP_011544250.1:p.Leu353Phe
XM_017023671.1:c.1948C>T XP_016879160.1:p.Leu650Phe
XM_017023672.2:c.1942C>T XP_016879161.1:p.Leu648Phe
XM_017023673.2:c.1942C>T XP_016879162.1:p.Leu648Phe
NM_024675.4:c.1942C>T MANE Select NP_078951.2:p.Leu648Phe