Canonical Allele Identifier: CA340356
Gene: MESP2 HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.89776664G>T
GRCh37 chr15:g.90319895G>T
gnomAD v2:
15:90319895 G / T
gnomAD v3:
15:89776664 G / T
gnomAD v4:
chr15-89776664-G-T
Joint Max Group AF 0.00061079 (AMR)
Genomes Max Group AF 0.00091838 (AMR)
Exomes Max Group AF 0.00037323 (AMR)
ClinVar RCV:
RCV000005493
RCV000760454
ClinVar Variation:
5184
dbSNP:
71647808
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.307G>T MANE Select ENSP00000342392.3:p.Glu103Ter
ENST00000341735.3:c.307G>T ENSP00000342392.3:p.Glu103Ter
ENST00000558723.1:n.39-1401G>T
ENST00000560219.2:c.31-1401G>T ENSP00000452998.1:n.31-1401G>T
NM_001039958.1:c.307G>T NP_001035047.1:p.Glu103Ter
NM_001039958.2:c.307G>T MANE Select NP_001035047.1:p.Glu103Ter
Search 100 bp 5'
Search 100 bp 3'