Canonical Allele Identifier: CA427808078

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 486544
• ClinVar RCV Id: RCV000561364 ; RCV001426650
• dbSNP Id: rs1269059052
• gnomAD v2: 2-96919762-G-C
• gnomAD v4: 2-96254024-G-C
• MyVariant Identifiers: chr2:g.96919762G>C (hg19) ; chr2:g.96254024G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96254024G>C , CM000664.2:g.96254024G>C	GRCh38
NC_000002.11:g.96919762G>C , CM000664.1:g.96919762G>C	GRCh37
NC_000002.10:g.96283489G>C	NCBI36
NG_027695.1:g.16990C>G , LRG_528:g.16990C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.501C>G MANE Select	ENSP00000258439.3:p.Ser167=
ENST00000258439.7:c.501C>G	ENSP00000258439.2:p.Ser167=
ENST00000432959.1:c.501C>G	ENSP00000416660.1:p.Ser167=
ENST00000435268.1:c.249C>G	ENSP00000411810.1:p.Ser83=
NM_001193304.2:c.501C>G	NP_001180233.1:p.Ser167=
NM_017849.3:c.501C>G , LRG_528t1:c.501C>G	NP_060319.1:p.Ser167=
XM_017004450.1:c.-418C>G	XP_016859939.1:n.-418C>G
XM_017004452.1:c.249C>G	XP_016859941.1:p.Ser83=
NM_001193304.3:c.501C>G	NP_001180233.1:p.Ser167=
NM_017849.4:c.501C>G MANE Select	NP_060319.1:p.Ser167=