Canonical Allele Identifier: CA1777345
Gene: TMEM127 HGNC NCBI

Linked Data

ClinVar Variation Id: 960997
ClinVar RCV Id: RCV001234621 RCV002451562
dbSNP Id: rs745385741
ExAC: 2:96920621 T / C
gnomAD v2: 2-96920621-T-C
gnomAD v4: 2-96254883-T-C
MyVariant Identifiers: chr2:g.96920621T>C (hg19) chr2:g.96254883T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.96254883T>C , CM000664.2:g.96254883T>C GRCh38
NC_000002.11:g.96920621T>C , CM000664.1:g.96920621T>C GRCh37
NC_000002.10:g.96284348T>C NCBI36
NG_027695.1:g.16131A>G , LRG_528:g.16131A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000258439.8:c.359A>G MANE Select ENSP00000258439.3:p.His120Arg
ENST00000258439.7:c.359A>G ENSP00000258439.2:p.His120Arg
ENST00000432959.1:c.359A>G ENSP00000416660.1:p.His120Arg
ENST00000435268.1:c.107A>G ENSP00000411810.1:p.His36Arg
NM_001193304.2:c.359A>G NP_001180233.1:p.His120Arg
NM_017849.3:c.359A>G , LRG_528t1:c.359A>G NP_060319.1:p.His120Arg
XM_017004450.1:c.-560A>G XP_016859939.1:n.-560A>G
XM_017004452.1:c.107A>G XP_016859941.1:p.His36Arg
NM_001193304.3:c.359A>G NP_001180233.1:p.His120Arg
NM_017849.4:c.359A>G MANE Select NP_060319.1:p.His120Arg
Search 100 bp 5'
Search 100 bp 3'