Canonical Allele Identifier: CA7730390
Gene: MESP2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89776664G>A
GRCh37 chr15:g.90319895G>A
Revel Score:
ENST00000341735 (MANE Select) 0.339
gnomAD v2:
15:90319895 G / A
gnomAD v3:
15:89776664 G / A
gnomAD v4:
chr15-89776664-G-A
Joint Max Group AF 0.00003476 (EAS)
Exomes Max Group AF 0.00003937 (EAS)
ClinVar RCV:
RCV002922502
ClinVar Variation:
2053439
dbSNP:
71647808
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776664G>A , CM000677.2:g.89776664G>A GRCh38
NC_000015.9:g.90319895G>A , CM000677.1:g.90319895G>A GRCh37
NC_000015.8:g.88120899G>A NCBI36
NG_008608.1:g.5307G>A
NG_008608.2:g.21074G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.307G>A MANE Select ENSP00000342392.3:p.Glu103Lys
ENST00000341735.3:c.307G>A ENSP00000342392.3:p.Glu103Lys
ENST00000558723.1:n.39-1401G>A
ENST00000560219.2:c.31-1401G>A ENSP00000452998.1:n.31-1401G>A
NM_001039958.1:c.307G>A NP_001035047.1:p.Glu103Lys
NM_001039958.2:c.307G>A MANE Select NP_001035047.1:p.Glu103Lys
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