Canonical Allele Identifier: CA394694738
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1483789463
gnomAD v2: 16-8891469-C-T
gnomAD v4: 16-8797612-C-T
MyVariant Identifiers: chr16:g.8891469C>T (hg19) chr16:g.8797612C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797612C>T , CM000678.2:g.8797612C>T GRCh38
NC_000016.9:g.8891469C>T , CM000678.1:g.8891469C>T GRCh37
NC_000016.8:g.8798970C>T NCBI36
NG_009209.1:g.4800C>T
NG_033146.1:g.5037G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3G>A (TMEM186) MANE Select ENSP00000331640.6:p.Met1Ile
ENST00000333050.6:c.3G>A (TMEM186) ENSP00000331640.6:p.Met1Ile
ENST00000564869.1:n.31G>A (TMEM186)
ENST00000566983.5:c.-15-4187C>T (PMM2) ENSP00000457956.1:n.-15-4187C>T
NM_015421.3:c.3G>A (TMEM186) NP_056236.2:p.Met1Ile
NM_015421.4:c.3G>A (TMEM186) MANE Select NP_056236.2:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'