Canonical Allele Identifier: CA895768942

Gene: TMEM127

Linked Data

• dbSNP Id: rs1222199354
• gnomAD v3: 2-96251741-C-CT
• gnomAD v4: 2-96251741-C-CT
• MyVariant Identifiers: chr2:g.96917479_96917480insT (hg19) ; chr2:g.96251741_96251742insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96251742dup , CM000664.2:g.96251742dup	GRCh38
NC_000002.11:g.96917480dup , CM000664.1:g.96917480dup	GRCh37
NC_000002.10:g.96281207dup	NCBI36
NG_027695.1:g.19272dup , LRG_528:g.19272dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*2066dup MANE Select	ENSP00000258439.3:n.*2066dup
ENST00000258439.7:c.*2066dup	ENSP00000258439.2:n.*2066dup
ENST00000432959.1:c.*2066dup	ENSP00000416660.1:n.*2066dup
NM_001193304.2:c.*2066dup	NP_001180233.1:n.*2066dup
NM_017849.3:c.*2066dup , LRG_528t1:c.*2066dup	NP_060319.1:n.*2066dup
XM_017004450.1:c.*1367dup	XP_016859939.1:n.*1367dup
XM_017004452.1:c.*2066dup	XP_016859941.1:n.*2066dup
NM_001193304.3:c.*2066dup	NP_001180233.1:n.*2066dup
NM_017849.4:c.*2066dup MANE Select	NP_060319.1:n.*2066dup