Canonical Allele Identifier: CA534371019

Gene: TMEM127

Linked Data

• ClinVar Variation Id: 2150978
• ClinVar RCV Id: RCV003067841
• dbSNP Id: rs760161880
• gnomAD v2: 2-96920750-C-G
• gnomAD v4: 2-96255012-C-G
• MyVariant Identifiers: chr2:g.96920750C>G (hg19) ; chr2:g.96255012C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.96255012C>G , CM000664.2:g.96255012C>G	GRCh38
NC_000002.11:g.96920750C>G , CM000664.1:g.96920750C>G	GRCh37
NC_000002.10:g.96284477C>G	NCBI36
NG_027695.1:g.16002G>C , LRG_528:g.16002G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000258439.8:c.245-15G>C MANE Select	ENSP00000258439.3:n.245-15G>C
ENST00000258439.7:c.245-15G>C	ENSP00000258439.2:n.245-15G>C
ENST00000432959.1:c.245-15G>C	ENSP00000416660.1:n.245-15G>C
ENST00000435268.1:c.-8-15G>C	ENSP00000411810.1:n.-8-15G>C
NM_001193304.2:c.245-15G>C	NP_001180233.1:n.245-15G>C
NM_017849.3:c.245-15G>C , LRG_528t1:c.245-15G>C	NP_060319.1:n.245-15G>C
XM_017004450.1:c.-674-15G>C	XP_016859939.1:n.-674-15G>C
XM_017004452.1:c.-8-15G>C	XP_016859941.1:n.-8-15G>C
NM_001193304.3:c.245-15G>C	NP_001180233.1:n.245-15G>C
NM_017849.4:c.245-15G>C MANE Select	NP_060319.1:n.245-15G>C