Canonical Allele Identifier: CA895768457

Gene: TMEM127

Linked Data

• dbSNP Id: rs1197056359
• gnomAD v3: 2-96250610-A-AC
• gnomAD v4: 2-96250610-A-AC
• MyVariant Identifiers: chr2:g.96916348_96916349insC (hg19) ; chr2:g.96250610_96250611insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96250610_96250611insC , CM000664.2:g.96250610_96250611insC	GRCh38
NC_000002.11:g.96916348_96916349insC , CM000664.1:g.96916348_96916349insC	GRCh37
NC_000002.10:g.96280075_96280076insC	NCBI36
NG_027695.1:g.20403_20404insG , LRG_528:g.20403_20404insG

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*3197_*3198insG MANE Select	ENSP00000258439.3:n.*3197_*3198insG
ENST00000258439.7:c.*3197_*3198insG	ENSP00000258439.2:n.*3197_*3198insG
NM_001193304.2:c.*3197_*3198insG	NP_001180233.1:n.*3197_*3198insG
NM_017849.3:c.*3197_*3198insG , LRG_528t1:c.*3197_*3198insG	NP_060319.1:n.*3197_*3198insG
XM_017004450.1:c.*2498_*2499insG	XP_016859939.1:n.*2498_*2499insG
XM_017004452.1:c.*3197_*3198insG	XP_016859941.1:n.*3197_*3198insG
NM_001193304.3:c.*3197_*3198insG	NP_001180233.1:n.*3197_*3198insG
NM_017849.4:c.*3197_*3198insG MANE Select	NP_060319.1:n.*3197_*3198insG