Canonical Allele Identifier: CA2162587

Gene: TEX44

Linked Data

• ClinVar Variation Id: 3176409
• ClinVar RCV Id: RCV004472285
• dbSNP Id: rs778873865
• ExAC: 2:232458161 G / A
• gnomAD v2: 2-232458161-G-A
• gnomAD v3: 2-231593450-G-A
• gnomAD v4: 2-231593450-G-A
• MyVariant Identifiers: chr2:g.232458161G>A (hg19) ; chr2:g.231593450G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.231593450G>A , CM000664.2:g.231593450G>A	GRCh38
NC_000002.11:g.232458161G>A , CM000664.1:g.232458161G>A	GRCh37
NC_000002.10:g.232166405G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000313965.4:c.499G>A MANE Select	ENSP00000315557.2:p.Val167Ile
ENST00000313965.3:c.499G>A	ENSP00000315557.2:p.Val167Ile
NM_152614.2:c.499G>A	NP_689827.2:p.Val167Ile
NM_152614.3:c.499G>A MANE Select	NP_689827.2:p.Val167Ile