Canonical Allele Identifier: CA7893818
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs777645068
ExAC: 16:8891484 T / A
gnomAD v2: 16-8891484-T-A
gnomAD v3: 16-8797627-T-A
gnomAD v4: 16-8797627-T-A
MyVariant Identifiers: chr16:g.8891484T>A (hg19) chr16:g.8797627T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797627T>A , CM000678.2:g.8797627T>A GRCh38
NC_000016.9:g.8891484T>A , CM000678.1:g.8891484T>A GRCh37
NC_000016.8:g.8798985T>A NCBI36
NG_009209.1:g.4815T>A
NG_033146.1:g.5022A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-13A>T (TMEM186) MANE Select ENSP00000331640.6:n.-13A>T
ENST00000333050.6:c.-13A>T (TMEM186) ENSP00000331640.6:n.-13A>T
ENST00000564869.1:n.16A>T (TMEM186)
ENST00000566983.5:c.-15-4172T>A (PMM2) ENSP00000457956.1:n.-15-4172T>A
NM_015421.3:c.-13A>T (TMEM186) NP_056236.2:n.-13A>T
NM_015421.4:c.-13A>T (TMEM186) MANE Select NP_056236.2:n.-13A>T
Search 100 bp 5'
Search 100 bp 3'