Canonical Allele Identifier: CA7730429

Gene: MESP2

Linked Data

• ClinVar Variation Id: 257240
• ClinVar RCV Id: RCV000252907 ; RCV000268957 ; RCV000971044
• dbSNP Id: rs200336355
• ExAC: 15:90320086 C / G
• gnomAD v2: 15-90320086-C-G
• gnomAD v3: 15-89776855-C-G
• gnomAD v4: 15-89776855-C-G
• MyVariant Identifiers: chr15:g.90320086C>G (hg19) ; chr15:g.89776855C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776855C>G , CM000677.2:g.89776855C>G	GRCh38
NC_000015.9:g.90320086C>G , CM000677.1:g.90320086C>G	GRCh37
NC_000015.8:g.88121090C>G	NCBI36
NG_008608.1:g.5498C>G
NG_008608.2:g.21265C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341735.5:c.498C>G MANE Select	ENSP00000342392.3:p.Pro166=
ENST00000341735.3:c.498C>G	ENSP00000342392.3:p.Pro166=
ENST00000558723.1:n.39-1210C>G
ENST00000560219.2:c.31-1210C>G	ENSP00000452998.1:n.31-1210C>G
NM_001039958.1:c.498C>G	NP_001035047.1:p.Pro166=
NM_001039958.2:c.498C>G MANE Select	NP_001035047.1:p.Pro166=