Canonical Allele Identifier: CA347652679

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2784924
• ClinVar RCV Id: RCV003633847
• MyVariant Identifiers: chr2:g.96919759C>G (hg19) ; chr2:g.96254021C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254021C>G , CM000664.2:g.96254021C>G	GRCh38
NC_000002.11:g.96919759C>G , CM000664.1:g.96919759C>G	GRCh37
NC_000002.10:g.96283486C>G	NCBI36
NG_027695.1:g.16993G>C , LRG_528:g.16993G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.504G>C MANE Select	ENSP00000258439.3:p.Gln168His
ENST00000258439.7:c.504G>C	ENSP00000258439.2:p.Gln168His
ENST00000432959.1:c.504G>C	ENSP00000416660.1:p.Gln168His
ENST00000435268.1:c.252G>C	ENSP00000411810.1:p.Gln84His
NM_001193304.2:c.504G>C	NP_001180233.1:p.Gln168His
NM_017849.3:c.504G>C , LRG_528t1:c.504G>C	NP_060319.1:p.Gln168His
XM_017004450.1:c.-415G>C	XP_016859939.1:n.-415G>C
XM_017004452.1:c.252G>C	XP_016859941.1:p.Gln84His
NM_001193304.3:c.504G>C	NP_001180233.1:p.Gln168His
NM_017849.4:c.504G>C MANE Select	NP_060319.1:p.Gln168His