Canonical Allele Identifier: CA347656053

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2910142
• ClinVar RCV Id: RCV003634188
• MyVariant Identifiers: chr2:g.96930989A>C (hg19) ; chr2:g.96265251A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96265251A>C , CM000664.2:g.96265251A>C	GRCh38
NC_000002.11:g.96930989A>C , CM000664.1:g.96930989A>C	GRCh37
NC_000002.10:g.96294716A>C	NCBI36
NG_027695.1:g.5763T>G , LRG_528:g.5763T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.131T>G MANE Select	ENSP00000258439.3:p.Leu44Arg
ENST00000258439.7:c.131T>G	ENSP00000258439.2:p.Leu44Arg
ENST00000432959.1:c.131T>G	ENSP00000416660.1:p.Leu44Arg
NM_001193304.2:c.131T>G	NP_001180233.1:p.Leu44Arg
NM_017849.3:c.131T>G , LRG_528t1:c.131T>G	NP_060319.1:p.Leu44Arg
NM_001193304.3:c.131T>G	NP_001180233.1:p.Leu44Arg
NM_017849.4:c.131T>G MANE Select	NP_060319.1:p.Leu44Arg