Canonical Allele Identifier: CA395143092
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 822650
ClinVar RCV Id: RCV001018164 RCV001048450
dbSNP Id: rs1228569190
MyVariant Identifiers: chr16:g.23632767T>G (hg19) chr16:g.23621446T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621446T>G , CM000678.2:g.23621446T>G GRCh38
NC_000016.9:g.23632767T>G , CM000678.1:g.23632767T>G GRCh37
NC_000016.8:g.23540268T>G NCBI36
NG_007406.1:g.24912A>C , LRG_308:g.24912A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3035A>C ENSP00000460666.3:p.Glu1012Ala
ENST00000565038.2:c.*510A>C ENSP00000459882.2:n.*510A>C
ENST00000566069.6:c.3029A>C ENSP00000459237.2:p.Glu1010Ala
ENST00000697377.2:c.2873A>C ENSP00000513286.2:p.Glu958Ala
ENST00000697379.2:c.3035A>C ENSP00000513287.2:p.Glu1012Ala
ENST00000561514.2:c.2144A>C ENSP00000460666.2:p.Glu715Ala
ENST00000697374.1:c.2144A>C ENSP00000513284.1:p.Glu715Ala
ENST00000697375.1:n.4376A>C
ENST00000697376.1:c.2144A>C ENSP00000513285.1:p.Glu715Ala
ENST00000697377.1:c.1982A>C ENSP00000513286.1:p.Glu661Ala
ENST00000697378.1:n.3549A>C
ENST00000697379.1:c.2144A>C ENSP00000513287.1:p.Glu715Ala
ENST00000697380.1:n.2321A>C
ENST00000697381.1:n.1724A>C
ENST00000697382.1:c.2144A>C ENSP00000513288.1:p.Glu715Ala
ENST00000697383.1:c.563A>C ENSP00000513289.1:p.Glu188Ala
ENST00000261584.9:c.3029A>C MANE Select ENSP00000261584.4:p.Glu1010Ala
ENST00000261584.8:c.3029A>C ENSP00000261584.4:p.Glu1010Ala
ENST00000568219.5:c.2144A>C ENSP00000454703.2:p.Glu715Ala
NM_024675.3:c.3029A>C , LRG_308t1:c.3029A>C NP_078951.2:p.Glu1010Ala
XM_011545946.1:c.3035A>C XP_011544248.1:p.Glu1012Ala
XM_011545947.1:c.3035A>C XP_011544249.1:p.Glu1012Ala
XM_011545948.1:c.2144A>C XP_011544250.1:p.Glu715Ala
XR_950851.1:n.3825A>C
XM_011545946.2:c.3035A>C XP_011544248.1:p.Glu1012Ala
XM_011545947.2:c.3035A>C XP_011544249.1:p.Glu1012Ala
XM_011545948.2:c.2144A>C XP_011544250.1:p.Glu715Ala
XM_017023671.1:c.3035A>C XP_016879160.1:p.Glu1012Ala
XM_017023672.2:c.3029A>C XP_016879161.1:p.Glu1010Ala
XM_017023673.2:c.3029A>C XP_016879162.1:p.Glu1010Ala
NM_024675.4:c.3029A>C MANE Select NP_078951.2:p.Glu1010Ala
Search 100 bp 5'
Search 100 bp 3'