Canonical Allele Identifier: CA7730352

Gene: MESP2

Linked Data

• ClinVar Variation Id: 257238
• ClinVar RCV Id: RCV000249757 ; RCV000401541
• dbSNP Id: rs139599055
• ExAC: 15:90319578 G / A
• gnomAD v2: 15-90319578-G-A
• gnomAD v3: 15-89776347-G-A
• gnomAD v4: 15-89776347-G-A
• MyVariant Identifiers: chr15:g.90319578G>A (hg19) ; chr15:g.89776347G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776347G>A , CM000677.2:g.89776347G>A	GRCh38
NC_000015.9:g.90319578G>A , CM000677.1:g.90319578G>A	GRCh37
NC_000015.8:g.88120582G>A	NCBI36
NG_008608.1:g.4990G>A
NG_008608.2:g.20757G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341735.5:c.-11G>A MANE Select	ENSP00000342392.3:n.-11G>A
ENST00000558723.1:n.39-1718G>A
ENST00000560219.2:c.31-1718G>A	ENSP00000452998.1:n.31-1718G>A
NM_001039958.2:c.-11G>A MANE Select	NP_001035047.1:n.-11G>A