Canonical Allele Identifier: CA1777327

Gene: TMEM127

Linked Data

• dbSNP Id: rs758346638
• ExAC: 2:96920573 GT / G
• gnomAD v2: 2-96920573-GT-G
• MyVariant Identifiers: chr2:g.96920574del (hg19) ; chr2:g.96254836del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254837del , CM000664.2:g.96254837del	GRCh38
NC_000002.11:g.96920575del , CM000664.1:g.96920575del	GRCh37
NC_000002.10:g.96284302del	NCBI36
NG_027695.1:g.16178del , LRG_528:g.16178del

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.406del MANE Select	ENSP00000258439.3:p.Thr136ArgfsTer?
ENST00000258439.7:c.406del	ENSP00000258439.2:p.Thr136ArgfsTer?
ENST00000432959.1:c.406del	ENSP00000416660.1:p.Thr136ArgfsTer?
ENST00000435268.1:c.154del	ENSP00000411810.1:p.Thr52ArgfsTer?
NM_001193304.2:c.406del	NP_001180233.1:p.Thr136ArgfsTer?
NM_017849.3:c.406del , LRG_528t1:c.406del	NP_060319.1:p.Thr136ArgfsTer?
XM_017004450.1:c.-513del	XP_016859939.1:n.-513del
XM_017004452.1:c.154del	XP_016859941.1:p.Thr52ArgfsTer?
NM_001193304.3:c.406del	NP_001180233.1:p.Thr136ArgfsTer?
NM_017849.4:c.406del MANE Select	NP_060319.1:p.Thr136ArgfsTer?