Canonical Allele Identifier: CA7730457

Gene: MESP2

Linked Data

• ClinVar Variation Id: 317389
• ClinVar RCV Id: RCV000316442 ; RCV000455241
• dbSNP Id: rs113097169
• ExAC: 15:90320161 G / A
• gnomAD v2: 15-90320161-G-A
• gnomAD v3: 15-89776930-G-A
• gnomAD v4: 15-89776930-G-A
• MyVariant Identifiers: chr15:g.90320161G>A (hg19) ; chr15:g.90320161_90320173delinsACAGGGGCAAGGA (hg19) ; chr15:g.89776930G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776930G>A , CM000677.2:g.89776930G>A	GRCh38
NC_000015.9:g.90320161G>A , CM000677.1:g.90320161G>A	GRCh37
NC_000015.8:g.88121165G>A	NCBI36
NG_008608.1:g.5573G>A
NG_008608.2:g.21340G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341735.5:c.573G>A MANE Select	ENSP00000342392.3:p.Gly191=
ENST00000341735.3:c.573G>A	ENSP00000342392.3:p.Gly191=
ENST00000558723.1:n.39-1135G>A
ENST00000560219.2:c.31-1135G>A	ENSP00000452998.1:n.31-1135G>A
NM_001039958.1:c.573G>A	NP_001035047.1:p.Gly191=
NM_001039958.2:c.573G>A MANE Select	NP_001035047.1:p.Gly191=