Canonical Allele Identifier: CA10616352
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 337472
ClinVar RCV Id: RCV000354154
dbSNP Id: rs7058
gnomAD v2: 2-96917588-T-G
gnomAD v3: 2-96251850-T-G
gnomAD v4: 2-96251850-T-G
MyVariant Identifiers: chr2:g.96917588T>G (hg19) chr2:g.96251850T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96251850T>G , CM000664.2:g.96251850T>G GRCh38
NC_000002.11:g.96917588T>G , CM000664.1:g.96917588T>G GRCh37
NC_000002.10:g.96281315T>G NCBI36
NG_027695.1:g.19164A>C , LRG_528:g.19164A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.*1958A>C MANE Select ENSP00000258439.3:n.*1958A>C
ENST00000258439.7:c.*1958A>C ENSP00000258439.2:n.*1958A>C
ENST00000432959.1:c.*1958A>C ENSP00000416660.1:n.*1958A>C
NM_001193304.2:c.*1958A>C NP_001180233.1:n.*1958A>C
NM_017849.3:c.*1958A>C , LRG_528t1:c.*1958A>C NP_060319.1:n.*1958A>C
XM_017004450.1:c.*1259A>C XP_016859939.1:n.*1259A>C
XM_017004452.1:c.*1958A>C XP_016859941.1:n.*1958A>C
NM_001193304.3:c.*1958A>C NP_001180233.1:n.*1958A>C
NM_017849.4:c.*1958A>C MANE Select NP_060319.1:n.*1958A>C
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