Canonical Allele Identifier: CA274596800
Gene: MESP2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89776598G>C
GRCh37 chr15:g.90319829G>C
Revel Score:
ENST00000341735 (MANE Select) 0.231
gnomAD v2:
15:90319829 G / C
gnomAD v3:
15:89776598 G / C
gnomAD v4:
chr15-89776598-G-C
Joint Max Group AF 0.00001583 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00001511 (NFE)
ClinVar RCV:
RCV005078289
ClinVar Variation:
3626639
dbSNP:
118204034
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776598G>C , CM000677.2:g.89776598G>C GRCh38
NC_000015.9:g.90319829G>C , CM000677.1:g.90319829G>C GRCh37
NC_000015.8:g.88120833G>C NCBI36
NG_008608.1:g.5241G>C
NG_008608.2:g.21008G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.241G>C MANE Select ENSP00000342392.3:p.Gly81Arg
ENST00000341735.3:c.241G>C ENSP00000342392.3:p.Gly81Arg
ENST00000558723.1:n.39-1467G>C
ENST00000560219.2:c.31-1467G>C ENSP00000452998.1:n.31-1467G>C
NM_001039958.1:c.241G>C NP_001035047.1:p.Gly81Arg
NM_001039958.2:c.241G>C MANE Select NP_001035047.1:p.Gly81Arg
Search 100 bp 5'
Search 100 bp 3'