Canonical Allele Identifier: CA895769452

Gene: TMEM127

Linked Data

• dbSNP Id: rs1287465465
• gnomAD v3: 2-96252537-G-GTACAT
• gnomAD v4: 2-96252537-G-GTACAT
• MyVariant Identifiers: chr2:g.96918275_96918276insTACAT (hg19) ; chr2:g.96252537_96252538insTACAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96252539_96252543dup , CM000664.2:g.96252539_96252543dup	GRCh38
NC_000002.11:g.96918277_96918281dup , CM000664.1:g.96918277_96918281dup	GRCh37
NC_000002.10:g.96282004_96282008dup	NCBI36
NG_027695.1:g.18472_18476dup , LRG_528:g.18472_18476dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.*1266_*1270dup MANE Select	ENSP00000258439.3:n.*1266_*1270dup
ENST00000258439.7:c.*1266_*1270dup	ENSP00000258439.2:n.*1266_*1270dup
ENST00000432959.1:c.*1266_*1270dup	ENSP00000416660.1:n.*1266_*1270dup
NM_001193304.2:c.*1266_*1270dup	NP_001180233.1:n.*1266_*1270dup
NM_017849.3:c.*1266_*1270dup , LRG_528t1:c.*1266_*1270dup	NP_060319.1:n.*1266_*1270dup
XM_017004450.1:c.*567_*571dup	XP_016859939.1:n.*567_*571dup
XM_017004452.1:c.*1266_*1270dup	XP_016859941.1:n.*1266_*1270dup
NM_001193304.3:c.*1266_*1270dup	NP_001180233.1:n.*1266_*1270dup
NM_017849.4:c.*1266_*1270dup MANE Select	NP_060319.1:n.*1266_*1270dup