Canonical Allele Identifier: CA10616471

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 337465
• ClinVar RCV Id: RCV000307014
• dbSNP Id: rs886056437
• gnomAD v2: 2-96917275-G-GA
• gnomAD v3: 2-96251537-G-GA
• gnomAD v4: 2-96251537-G-GA
• MyVariant Identifiers: chr2:g.96917276dupA (hg19) ; chr2:g.96917276_96917277insA (hg19) ; chr2:g.96917275_96917276insA (hg19) ; chr2:g.96251538dupA (hg38) ; chr2:g.96251538_96251539insA (hg38) ; chr2:g.96251537_96251538insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251546dup , CM000664.2:g.96251546dup	GRCh38
NC_000002.11:g.96917284dup , CM000664.1:g.96917284dup	GRCh37
NC_000002.10:g.96281011dup	NCBI36
NG_027695.1:g.19476dup , LRG_528:g.19476dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*2270dup MANE Select	ENSP00000258439.3:n.*2270dup
ENST00000258439.7:c.*2270dup	ENSP00000258439.2:n.*2270dup
NM_001193304.2:c.*2270dup	NP_001180233.1:n.*2270dup
NM_017849.3:c.*2270dup , LRG_528t1:c.*2270dup	NP_060319.1:n.*2270dup
XM_017004450.1:c.*1571dup	XP_016859939.1:n.*1571dup
XM_017004452.1:c.*2270dup	XP_016859941.1:n.*2270dup
NM_001193304.3:c.*2270dup	NP_001180233.1:n.*2270dup
NM_017849.4:c.*2270dup MANE Select	NP_060319.1:n.*2270dup