Canonical Allele Identifier: CA347652142

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 486543
• ClinVar RCV Id: RCV000571217 ; RCV000685588 ; RCV003233749
• dbSNP Id: rs1231066976
• gnomAD v2: 2-96919673-C-T
• gnomAD v3: 2-96253935-C-T
• gnomAD v4: 2-96253935-C-T
• COSMIC: COSM2825355
• MyVariant Identifiers: chr2:g.96919673C>T (hg19) ; chr2:g.96253935C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253935C>T , CM000664.2:g.96253935C>T	GRCh38
NC_000002.11:g.96919673C>T , CM000664.1:g.96919673C>T	GRCh37
NC_000002.10:g.96283400C>T	NCBI36
NG_027695.1:g.17079G>A , LRG_528:g.17079G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.590G>A MANE Select	ENSP00000258439.3:p.Arg197His
ENST00000258439.7:c.590G>A	ENSP00000258439.2:p.Arg197His
ENST00000432959.1:c.590G>A	ENSP00000416660.1:p.Arg197His
ENST00000435268.1:c.338G>A	ENSP00000411810.1:p.Arg113His
NM_001193304.2:c.590G>A	NP_001180233.1:p.Arg197His
NM_017849.3:c.590G>A , LRG_528t1:c.590G>A	NP_060319.1:p.Arg197His
XM_017004450.1:c.-329G>A	XP_016859939.1:n.-329G>A
XM_017004452.1:c.338G>A	XP_016859941.1:p.Arg113His
NM_001193304.3:c.590G>A	NP_001180233.1:p.Arg197His
NM_017849.4:c.590G>A MANE Select	NP_060319.1:p.Arg197His