Canonical Allele Identifier: CA895769416

Gene: TMEM127

Linked Data

• dbSNP Id: rs1340259056
• gnomAD v3: 2-96252405-T-TGAAG
• gnomAD v4: 2-96252405-T-TGAAG
• MyVariant Identifiers: chr2:g.96918143_96918144insGAAG (hg19) ; chr2:g.96252405_96252406insGAAG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96252407_96252410dup , CM000664.2:g.96252407_96252410dup	GRCh38
NC_000002.11:g.96918145_96918148dup , CM000664.1:g.96918145_96918148dup	GRCh37
NC_000002.10:g.96281872_96281875dup	NCBI36
NG_027695.1:g.18605_18608dup , LRG_528:g.18605_18608dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.*1399_*1402dup MANE Select	ENSP00000258439.3:n.*1399_*1402dup
ENST00000258439.7:c.*1399_*1402dup	ENSP00000258439.2:n.*1399_*1402dup
ENST00000432959.1:c.*1399_*1402dup	ENSP00000416660.1:n.*1399_*1402dup
NM_001193304.2:c.*1399_*1402dup	NP_001180233.1:n.*1399_*1402dup
NM_017849.3:c.*1399_*1402dup , LRG_528t1:c.*1399_*1402dup	NP_060319.1:n.*1399_*1402dup
XM_017004450.1:c.*700_*703dup	XP_016859939.1:n.*700_*703dup
XM_017004452.1:c.*1399_*1402dup	XP_016859941.1:n.*1399_*1402dup
NM_001193304.3:c.*1399_*1402dup	NP_001180233.1:n.*1399_*1402dup
NM_017849.4:c.*1399_*1402dup MANE Select	NP_060319.1:n.*1399_*1402dup