Canonical Allele Identifier: CA7893820
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs770969516
ExAC: 16:8891487 T / G
gnomAD v2: 16-8891487-T-G
gnomAD v3: 16-8797630-T-G
gnomAD v4: 16-8797630-T-G
MyVariant Identifiers: chr16:g.8891487T>G (hg19) chr16:g.8797630T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797630T>G , CM000678.2:g.8797630T>G GRCh38
NC_000016.9:g.8891487T>G , CM000678.1:g.8891487T>G GRCh37
NC_000016.8:g.8798988T>G NCBI36
NG_009209.1:g.4818T>G
NG_033146.1:g.5019A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-16A>C (TMEM186) MANE Select ENSP00000331640.6:n.-16A>C
ENST00000333050.6:c.-16A>C (TMEM186) ENSP00000331640.6:n.-16A>C
ENST00000564869.1:n.13A>C (TMEM186)
ENST00000566983.5:c.-15-4169T>G (PMM2) ENSP00000457956.1:n.-15-4169T>G
NM_015421.3:c.-16A>C (TMEM186) NP_056236.2:n.-16A>C
NM_015421.4:c.-16A>C (TMEM186) MANE Select NP_056236.2:n.-16A>C
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