Canonical Allele Identifier: CA395143094
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1498534
ClinVar RCV Id: RCV002019685
dbSNP Id: rs1228569190
gnomAD v3: 16-23621446-T-C
gnomAD v4: 16-23621446-T-C
MyVariant Identifiers: chr16:g.23632767T>C (hg19) chr16:g.23621446T>C (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3035A>G ENSP00000460666.3:p.Glu1012Gly
ENST00000565038.2:c.*510A>G ENSP00000459882.2:n.*510A>G
ENST00000566069.6:c.3029A>G ENSP00000459237.2:p.Glu1010Gly
ENST00000697377.2:c.2873A>G ENSP00000513286.2:p.Glu958Gly
ENST00000697379.2:c.3035A>G ENSP00000513287.2:p.Glu1012Gly
ENST00000561514.2:c.2144A>G ENSP00000460666.2:p.Glu715Gly
ENST00000697374.1:c.2144A>G ENSP00000513284.1:p.Glu715Gly
ENST00000697375.1:n.4376A>G
ENST00000697376.1:c.2144A>G ENSP00000513285.1:p.Glu715Gly
ENST00000697377.1:c.1982A>G ENSP00000513286.1:p.Glu661Gly
ENST00000697378.1:n.3549A>G
ENST00000697379.1:c.2144A>G ENSP00000513287.1:p.Glu715Gly
ENST00000697380.1:n.2321A>G
ENST00000697381.1:n.1724A>G
ENST00000697382.1:c.2144A>G ENSP00000513288.1:p.Glu715Gly
ENST00000697383.1:c.563A>G ENSP00000513289.1:p.Glu188Gly
ENST00000261584.9:c.3029A>G MANE Select ENSP00000261584.4:p.Glu1010Gly
ENST00000261584.8:c.3029A>G ENSP00000261584.4:p.Glu1010Gly
ENST00000568219.5:c.2144A>G ENSP00000454703.2:p.Glu715Gly
NM_024675.3:c.3029A>G , LRG_308t1:c.3029A>G NP_078951.2:p.Glu1010Gly
XM_011545946.1:c.3035A>G XP_011544248.1:p.Glu1012Gly
XM_011545947.1:c.3035A>G XP_011544249.1:p.Glu1012Gly
XM_011545948.1:c.2144A>G XP_011544250.1:p.Glu715Gly
XR_950851.1:n.3825A>G
XM_011545946.2:c.3035A>G XP_011544248.1:p.Glu1012Gly
XM_011545947.2:c.3035A>G XP_011544249.1:p.Glu1012Gly
XM_011545948.2:c.2144A>G XP_011544250.1:p.Glu715Gly
XM_017023671.1:c.3035A>G XP_016879160.1:p.Glu1012Gly
XM_017023672.2:c.3029A>G XP_016879161.1:p.Glu1010Gly
XM_017023673.2:c.3029A>G XP_016879162.1:p.Glu1010Gly
NM_024675.4:c.3029A>G MANE Select NP_078951.2:p.Glu1010Gly
Search 100 bp 5'
Search 100 bp 3'