Canonical Allele Identifier: CA52419092
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 463837
ClinVar RCV Id: RCV000528885 RCV003114660 RCV001010941
dbSNP Id: rs995979769
gnomAD v2: 2-96930987-A-T
gnomAD v3: 2-96265249-A-T
gnomAD v4: 2-96265249-A-T
MyVariant Identifiers: chr2:g.96930987A>T (hg19) chr2:g.96265249A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96265249A>T , CM000664.2:g.96265249A>T GRCh38
NC_000002.11:g.96930987A>T , CM000664.1:g.96930987A>T GRCh37
NC_000002.10:g.96294714A>T NCBI36
NG_027695.1:g.5765T>A , LRG_528:g.5765T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.133T>A MANE Select ENSP00000258439.3:p.Cys45Ser
ENST00000258439.7:c.133T>A ENSP00000258439.2:p.Cys45Ser
ENST00000432959.1:c.133T>A ENSP00000416660.1:p.Cys45Ser
NM_001193304.2:c.133T>A NP_001180233.1:p.Cys45Ser
NM_017849.3:c.133T>A , LRG_528t1:c.133T>A NP_060319.1:p.Cys45Ser
NM_001193304.3:c.133T>A NP_001180233.1:p.Cys45Ser
NM_017849.4:c.133T>A MANE Select NP_060319.1:p.Cys45Ser
Search 100 bp 5'
Search 100 bp 3'