Canonical Allele Identifier: CA534371028

Gene: TMEM127

Linked Data

• dbSNP Id: rs1482339855
• gnomAD v2: 2-96920807-T-TA
• MyVariant Identifiers: chr2:g.96920807_96920808insA (hg19) ; chr2:g.96255069_96255070insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255069_96255070insA , CM000664.2:g.96255069_96255070insA	GRCh38
NC_000002.11:g.96920807_96920808insA , CM000664.1:g.96920807_96920808insA	GRCh37
NC_000002.10:g.96284534_96284535insA	NCBI36
NG_027695.1:g.15944_15945insT , LRG_528:g.15944_15945insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.245-73_245-72insT MANE Select	ENSP00000258439.3:n.245-73_245-72insT
ENST00000258439.7:c.245-73_245-72insT	ENSP00000258439.2:n.245-73_245-72insT
ENST00000432959.1:c.245-73_245-72insT	ENSP00000416660.1:n.245-73_245-72insT
ENST00000435268.1:c.-8-73_-8-72insT	ENSP00000411810.1:n.-8-73_-8-72insT
NM_001193304.2:c.245-73_245-72insT	NP_001180233.1:n.245-73_245-72insT
NM_017849.3:c.245-73_245-72insT , LRG_528t1:c.245-73_245-72insT	NP_060319.1:n.245-73_245-72insT
XM_017004450.1:c.-674-73_-674-72insT	XP_016859939.1:n.-674-73_-674-72insT
XM_017004452.1:c.-8-73_-8-72insT	XP_016859941.1:n.-8-73_-8-72insT
NM_001193304.3:c.245-73_245-72insT	NP_001180233.1:n.245-73_245-72insT
NM_017849.4:c.245-73_245-72insT MANE Select	NP_060319.1:n.245-73_245-72insT