Canonical Allele Identifier: CA347651509

Gene: TMEM127

Linked Data

• MyVariant Identifiers: chr2:g.96919609C>G (hg19) ; chr2:g.96253871C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253871C>G , CM000664.2:g.96253871C>G	GRCh38
NC_000002.11:g.96919609C>G , CM000664.1:g.96919609C>G	GRCh37
NC_000002.10:g.96283336C>G	NCBI36
NG_027695.1:g.17143G>C , LRG_528:g.17143G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.654G>C MANE Select	ENSP00000258439.3:p.Glu218Asp
ENST00000258439.7:c.654G>C	ENSP00000258439.2:p.Glu218Asp
ENST00000432959.1:c.654G>C	ENSP00000416660.1:p.Glu218Asp
ENST00000435268.1:c.402G>C	ENSP00000411810.1:p.Glu134Asp
NM_001193304.2:c.654G>C	NP_001180233.1:p.Glu218Asp
NM_017849.3:c.654G>C , LRG_528t1:c.654G>C	NP_060319.1:p.Glu218Asp
XM_017004450.1:c.-265G>C	XP_016859939.1:n.-265G>C
XM_017004452.1:c.402G>C	XP_016859941.1:p.Glu134Asp
NM_001193304.3:c.654G>C	NP_001180233.1:p.Glu218Asp
NM_017849.4:c.654G>C MANE Select	NP_060319.1:p.Glu218Asp