Canonical Allele Identifier: CA7730559
Gene: MESP2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89778097G>A
GRCh37 chr15:g.90321328G>A
gnomAD v2:
15:90321328 G / A
gnomAD v3:
15:89778097 G / A
gnomAD v4:
chr15-89778097-G-A
Joint Max Group AF 0.00022318 (EAS)
Genomes Max Group AF 0.00014907 (AFR)
Exomes Max Group AF 0.00023278 (EAS)
ClinVar Allele:
255424
ClinVar RCV:
RCV000245402
RCV000664884
RCV000932131
ClinVar Variation:
257250
dbSNP:
752665246
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89778097G>A , CM000677.2:g.89778097G>A GRCh38
NC_000015.9:g.90321328G>A , CM000677.1:g.90321328G>A GRCh37
NC_000015.8:g.88122332G>A NCBI36
NG_008608.1:g.6740G>A
NG_008608.2:g.22507G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.957G>A MANE Select ENSP00000342392.3:p.Ser319=
ENST00000341735.3:c.957G>A ENSP00000342392.3:p.Ser319=
ENST00000558723.1:n.71G>A
ENST00000560219.2:c.63G>A ENSP00000452998.1:p.Ser21=
NM_001039958.1:c.957G>A NP_001035047.1:p.Ser319=
NM_001039958.2:c.957G>A MANE Select NP_001035047.1:p.Ser319=
Search 100 bp 5'
Search 100 bp 3'