Canonical Allele Identifier: CA394694740
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797613-A-G
MyVariant Identifiers: chr16:g.8891470A>G (hg19) chr16:g.8797613A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797613A>G , CM000678.2:g.8797613A>G GRCh38
NC_000016.9:g.8891470A>G , CM000678.1:g.8891470A>G GRCh37
NC_000016.8:g.8798971A>G NCBI36
NG_009209.1:g.4801A>G
NG_033146.1:g.5036T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.2T>C (TMEM186) MANE Select ENSP00000331640.6:p.Met1Thr
ENST00000333050.6:c.2T>C (TMEM186) ENSP00000331640.6:p.Met1Thr
ENST00000564869.1:n.30T>C (TMEM186)
ENST00000566983.5:c.-15-4186A>G (PMM2) ENSP00000457956.1:n.-15-4186A>G
NM_015421.3:c.2T>C (TMEM186) NP_056236.2:p.Met1Thr
NM_015421.4:c.2T>C (TMEM186) MANE Select NP_056236.2:p.Met1Thr
Search 100 bp 5'
Search 100 bp 3'