Canonical Allele Identifier: CA347651492

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1014859
• ClinVar RCV Id: RCV001313649 ; RCV003166787
• dbSNP Id: rs1684141729
• gnomAD v3: 2-96253867-A-G
• gnomAD v4: 2-96253867-A-G
• MyVariant Identifiers: chr2:g.96919605A>G (hg19) ; chr2:g.96253867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253867A>G , CM000664.2:g.96253867A>G	GRCh38
NC_000002.11:g.96919605A>G , CM000664.1:g.96919605A>G	GRCh37
NC_000002.10:g.96283332A>G	NCBI36
NG_027695.1:g.17147T>C , LRG_528:g.17147T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.658T>C MANE Select	ENSP00000258439.3:p.Tyr220His
ENST00000258439.7:c.658T>C	ENSP00000258439.2:p.Tyr220His
ENST00000432959.1:c.658T>C	ENSP00000416660.1:p.Tyr220His
ENST00000435268.1:c.406T>C	ENSP00000411810.1:p.Tyr136His
NM_001193304.2:c.658T>C	NP_001180233.1:p.Tyr220His
NM_017849.3:c.658T>C , LRG_528t1:c.658T>C	NP_060319.1:p.Tyr220His
XM_017004450.1:c.-261T>C	XP_016859939.1:n.-261T>C
XM_017004452.1:c.406T>C	XP_016859941.1:p.Tyr136His
NM_001193304.3:c.658T>C	NP_001180233.1:p.Tyr220His
NM_017849.4:c.658T>C MANE Select	NP_060319.1:p.Tyr220His