Canonical Allele Identifier: CA279502031
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 657328
ClinVar RCV Id: RCV000813912
dbSNP Id: rs141047069

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23638074A>G , CM000678.2:g.23638074A>G GRCh38
NC_000016.9:g.23649395A>G , CM000678.1:g.23649395A>G GRCh37
NC_000016.8:g.23556896A>G NCBI36
NG_007406.1:g.8284T>C , LRG_308:g.8284T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000261584.9:c.104T>C MANE Select ENSP00000261584.4:p.Leu35Pro
ENST00000261584.8:c.104T>C ENSP00000261584.4:p.Leu35Pro
ENST00000561514.1:c.110T>C ENSP00000460666.1:p.Leu37Pro
ENST00000567003.1:n.382T>C
ENST00000568219.5:c.-782T>C ENSP00000454703.2:p.=
NM_024675.3:c.104T>C , LRG_308t1:c.104T>C NP_078951.2:p.Leu35Pro
XM_011545946.1:c.110T>C XP_011544248.1:p.Leu37Pro
XM_011545947.1:c.110T>C XP_011544249.1:p.Leu37Pro
XM_011545948.1:c.-782T>C XP_011544250.1:p.=
XR_950851.1:n.900T>C
XM_011545946.2:c.110T>C XP_011544248.1:p.Leu37Pro
XM_011545947.2:c.110T>C XP_011544249.1:p.Leu37Pro
XM_011545948.2:c.-782T>C XP_011544250.1:p.=
XM_017023671.1:c.110T>C XP_016879160.1:p.Leu37Pro
XM_017023672.2:c.104T>C XP_016879161.1:p.Leu35Pro
XM_017023673.2:c.104T>C XP_016879162.1:p.Leu35Pro
NM_024675.4:c.104T>C MANE Select NP_078951.2:p.Leu35Pro