Canonical Allele Identifier: CA347652052

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 1063087
• ClinVar RCV Id: RCV001372892
• dbSNP Id: rs1684145823
• MyVariant Identifiers: chr2:g.96919666G>T (hg19) ; chr2:g.96253928G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253928G>T , CM000664.2:g.96253928G>T	GRCh38
NC_000002.11:g.96919666G>T , CM000664.1:g.96919666G>T	GRCh37
NC_000002.10:g.96283393G>T	NCBI36
NG_027695.1:g.17086C>A , LRG_528:g.17086C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.597C>A MANE Select	ENSP00000258439.3:p.Tyr199Ter
ENST00000258439.7:c.597C>A	ENSP00000258439.2:p.Tyr199Ter
ENST00000432959.1:c.597C>A	ENSP00000416660.1:p.Tyr199Ter
ENST00000435268.1:c.345C>A	ENSP00000411810.1:p.Tyr115Ter
NM_001193304.2:c.597C>A	NP_001180233.1:p.Tyr199Ter
NM_017849.3:c.597C>A , LRG_528t1:c.597C>A	NP_060319.1:p.Tyr199Ter
XM_017004450.1:c.-322C>A	XP_016859939.1:n.-322C>A
XM_017004452.1:c.345C>A	XP_016859941.1:p.Tyr115Ter
NM_001193304.3:c.597C>A	NP_001180233.1:p.Tyr199Ter
NM_017849.4:c.597C>A MANE Select	NP_060319.1:p.Tyr199Ter