Canonical Allele Identifier: CA16617773

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 421874
• ClinVar RCV Id: RCV000484919 ; RCV001215668
• dbSNP Id: rs1553436874
• MyVariant Identifiers: chr2:g.96919731dupA (hg19) ; chr2:g.96919730_96919731insA (hg19) ; chr2:g.96253993dupA (hg38) ; chr2:g.96253992_96253993insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253993dup , CM000664.2:g.96253993dup	GRCh38
NC_000002.11:g.96919731dup , CM000664.1:g.96919731dup	GRCh37
NC_000002.10:g.96283458dup	NCBI36
NG_027695.1:g.17021dup , LRG_528:g.17021dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.532dup MANE Select	ENSP00000258439.3:p.Tyr178LeufsTer?
ENST00000258439.7:c.532dup	ENSP00000258439.2:p.Tyr178LeufsTer?
ENST00000432959.1:c.532dup	ENSP00000416660.1:p.Tyr178LeufsTer?
ENST00000435268.1:c.280dup	ENSP00000411810.1:p.Tyr94LeufsTer?
NM_001193304.2:c.532dup	NP_001180233.1:p.Tyr178LeufsTer?
NM_017849.3:c.532dup , LRG_528t1:c.532dup	NP_060319.1:p.Tyr178LeufsTer?
XM_017004450.1:c.-387dup	XP_016859939.1:n.-387dup
XM_017004452.1:c.280dup	XP_016859941.1:p.Tyr94LeufsTer?
NM_001193304.3:c.532dup	NP_001180233.1:p.Tyr178LeufsTer?
NM_017849.4:c.532dup MANE Select	NP_060319.1:p.Tyr178LeufsTer?