Canonical Allele Identifier: CA4068162

Gene: TMEM242

Linked Data

• ClinVar Variation Id: 2316118
• ClinVar RCV Id: RCV004159335
• dbSNP Id: rs781906669
• ExAC: 6:157739857 C / T
• gnomAD v2: 6-157739857-C-T
• gnomAD v4: 6-157318825-C-T
• MyVariant Identifiers: chr6:g.157739857C>T (hg19) ; chr6:g.157318825C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.157318825C>T , CM000668.2:g.157318825C>T	GRCh38
NC_000006.11:g.157739857C>T , CM000668.1:g.157739857C>T	GRCh37
NC_000006.10:g.157659845C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000400788.9:c.284G>A MANE Select	ENSP00000383594.3:p.Gly95Asp
ENST00000367144.4:c.284G>A	ENSP00000356112.3:p.Gly95Asp
ENST00000400788.8:c.284G>A	ENSP00000383594.3:p.Gly95Asp
NM_018452.5:c.284G>A	NP_060922.2:p.Gly95Asp
NM_018452.6:c.284G>A MANE Select	NP_060922.2:p.Gly95Asp