Canonical Allele Identifier: CA393770750

Gene: MESP2

Linked Data

• gnomAD v4: 15-89776878-A-T
• MyVariant Identifiers: chr15:g.90320109A>T (hg19) ; chr15:g.89776878A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89776878A>T , CM000677.2:g.89776878A>T	GRCh38
NC_000015.9:g.90320109A>T , CM000677.1:g.90320109A>T	GRCh37
NC_000015.8:g.88121113A>T	NCBI36
NG_008608.1:g.5521A>T
NG_008608.2:g.21288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341735.5:c.521A>T MANE Select	ENSP00000342392.3:p.Gln174Leu
ENST00000341735.3:c.521A>T	ENSP00000342392.3:p.Gln174Leu
ENST00000558723.1:n.39-1187A>T
ENST00000560219.2:c.31-1187A>T	ENSP00000452998.1:n.31-1187A>T
NM_001039958.1:c.521A>T	NP_001035047.1:p.Gln174Leu
NM_001039958.2:c.521A>T MANE Select	NP_001035047.1:p.Gln174Leu