Canonical Allele Identifier: CA1777302
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 1136307
ClinVar RCV Id: RCV002329566 RCV001471895
dbSNP Id: rs774321958
ExAC: 2:96919825 A / G
gnomAD v2: 2-96919825-A-G
gnomAD v3: 2-96254087-A-G
gnomAD v4: 2-96254087-A-G
MyVariant Identifiers: chr2:g.96919825A>G (hg19) chr2:g.96254087A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254087A>G , CM000664.2:g.96254087A>G GRCh38
NC_000002.11:g.96919825A>G , CM000664.1:g.96919825A>G GRCh37
NC_000002.10:g.96283552A>G NCBI36
NG_027695.1:g.16927T>C , LRG_528:g.16927T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.438T>C MANE Select ENSP00000258439.3:p.Phe146=
ENST00000258439.7:c.438T>C ENSP00000258439.2:p.Phe146=
ENST00000432959.1:c.438T>C ENSP00000416660.1:p.Phe146=
ENST00000435268.1:c.186T>C ENSP00000411810.1:p.Phe62=
NM_001193304.2:c.438T>C NP_001180233.1:p.Phe146=
NM_017849.3:c.438T>C , LRG_528t1:c.438T>C NP_060319.1:p.Phe146=
XM_017004450.1:c.-481T>C XP_016859939.1:n.-481T>C
XM_017004452.1:c.186T>C XP_016859941.1:p.Phe62=
NM_001193304.3:c.438T>C NP_001180233.1:p.Phe146=
NM_017849.4:c.438T>C MANE Select NP_060319.1:p.Phe146=
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