Canonical Allele Identifier: CA376249839
Gene: PLXDC2 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.20245461A>C
GRCh37 chr10:g.20534390A>C
Revel Score:
ENST00000377252 (MANE Select) 0.047
ENST00000377242 0.047
ENST00000377238 0.047
ENST00000536022 0.047
ClinVar Allele:
2289528
ClinVar RCV:
RCV004154246
ClinVar Variation:
2301902
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.20245461A>C , CM000672.2:g.20245461A>C GRCh38
NC_000010.10:g.20534390A>C , CM000672.1:g.20534390A>C GRCh37
NC_000010.9:g.20574396A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000377252.5:c.1429A>C MANE Select ENSP00000366460.3:p.Met477Leu
ENST00000377238.2:n.1204A>C
ENST00000377242.7:c.1282A>C ENSP00000366450.3:p.Met428Leu
ENST00000377252.4:c.1429A>C ENSP00000366460.3:p.Met477Leu
NM_001282736.1:c.1282A>C NP_001269665.1:p.Met428Leu
NM_032812.8:c.1429A>C NP_116201.7:p.Met477Leu
XM_011519750.1:c.1429A>C XP_011518052.1:p.Met477Leu
XM_011519750.2:c.1429A>C XP_011518052.1:p.Met477Leu
NM_032812.9:c.1429A>C MANE Select NP_116201.7:p.Met477Leu
NM_001282736.2:c.1282A>C NP_001269665.1:p.Met428Leu
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