Canonical Allele Identifier: CA7730435
Gene: MESP2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1510819
ClinVar RCV Id: RCV002014151
dbSNP Id: rs374604155
ExAC: 15:90320105 G / T
gnomAD v2: 15-90320105-G-T
gnomAD v3: 15-89776874-G-T
gnomAD v4: 15-89776874-G-T
MyVariant Identifiers: chr15:g.90320105G>T (hg19) chr15:g.89776874G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89776874G>T , CM000677.2:g.89776874G>T GRCh38
NC_000015.9:g.90320105G>T , CM000677.1:g.90320105G>T GRCh37
NC_000015.8:g.88121109G>T NCBI36
NG_008608.1:g.5517G>T
NG_008608.2:g.21284G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000341735.5:c.517G>T MANE Select ENSP00000342392.3:p.Ala173Ser
ENST00000341735.3:c.517G>T ENSP00000342392.3:p.Ala173Ser
ENST00000558723.1:n.39-1191G>T
ENST00000560219.2:c.31-1191G>T ENSP00000452998.1:n.31-1191G>T
NM_001039958.1:c.517G>T NP_001035047.1:p.Ala173Ser
NM_001039958.2:c.517G>T MANE Select NP_001035047.1:p.Ala173Ser
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