Canonical Allele Identifier: CA52411978

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 532527
• ClinVar RCV Id: RCV000639361 ; RCV001024756
• dbSNP Id: rs200351681
• gnomAD v2: 2-96919665-G-A
• gnomAD v3: 2-96253927-G-A
• gnomAD v4: 2-96253927-G-A
• MyVariant Identifiers: chr2:g.96919665G>A (hg19) ; chr2:g.96253927G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96253927G>A , CM000664.2:g.96253927G>A	GRCh38
NC_000002.11:g.96919665G>A , CM000664.1:g.96919665G>A	GRCh37
NC_000002.10:g.96283392G>A	NCBI36
NG_027695.1:g.17087C>T , LRG_528:g.17087C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000258439.8:c.598C>T MANE Select	ENSP00000258439.3:p.Pro200Ser
ENST00000258439.7:c.598C>T	ENSP00000258439.2:p.Pro200Ser
ENST00000432959.1:c.598C>T	ENSP00000416660.1:p.Pro200Ser
ENST00000435268.1:c.346C>T	ENSP00000411810.1:p.Pro116Ser
NM_001193304.2:c.598C>T	NP_001180233.1:p.Pro200Ser
NM_017849.3:c.598C>T , LRG_528t1:c.598C>T	NP_060319.1:p.Pro200Ser
XM_017004450.1:c.-321C>T	XP_016859939.1:n.-321C>T
XM_017004452.1:c.346C>T	XP_016859941.1:p.Pro116Ser
NM_001193304.3:c.598C>T	NP_001180233.1:p.Pro200Ser
NM_017849.4:c.598C>T MANE Select	NP_060319.1:p.Pro200Ser