Canonical Allele Identifier: CA7730391
Gene: MESP2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89776664G>C
GRCh37 chr15:g.90319895G>C
Revel Score:
ENST00000341735 (MANE Select) 0.286
gnomAD v2:
15:90319895 G / C
gnomAD v3:
15:89776664 G / C
gnomAD v4:
chr15-89776664-G-C
Joint Max Group AF 0.00000653 (AMR)
Exomes Max Group AF 0.00000934 (AMR)
dbSNP:
71647808
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.307G>C MANE Select ENSP00000342392.3:p.Glu103Gln
ENST00000341735.3:c.307G>C ENSP00000342392.3:p.Glu103Gln
ENST00000558723.1:n.39-1401G>C
ENST00000560219.2:c.31-1401G>C ENSP00000452998.1:n.31-1401G>C
NM_001039958.1:c.307G>C NP_001035047.1:p.Glu103Gln
NM_001039958.2:c.307G>C MANE Select NP_001035047.1:p.Glu103Gln
Search 100 bp 5'
Search 100 bp 3'