Canonical Allele Identifier: CA393770669

Gene: MESP2

Linked Data

• gnomAD v4: 15-89776869-C-T
• MyVariant Identifiers: chr15:g.90320100C>T (hg19) ; chr15:g.89776869C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776869C>T , CM000677.2:g.89776869C>T	GRCh38
NC_000015.9:g.90320100C>T , CM000677.1:g.90320100C>T	GRCh37
NC_000015.8:g.88121104C>T	NCBI36
NG_008608.1:g.5512C>T
NG_008608.2:g.21279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341735.5:c.512C>T MANE Select	ENSP00000342392.3:p.Ala171Val
ENST00000341735.3:c.512C>T	ENSP00000342392.3:p.Ala171Val
ENST00000558723.1:n.39-1196C>T
ENST00000560219.2:c.31-1196C>T	ENSP00000452998.1:n.31-1196C>T
NM_001039958.1:c.512C>T	NP_001035047.1:p.Ala171Val
NM_001039958.2:c.512C>T MANE Select	NP_001035047.1:p.Ala171Val