Canonical Allele Identifier: CA7893806
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs145394389
ExAC: 16:8891449 C / G
gnomAD v2: 16-8891449-C-G
gnomAD v3: 16-8797592-C-G
gnomAD v4: 16-8797592-C-G
MyVariant Identifiers: chr16:g.8891449C>G (hg19) chr16:g.8797592C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797592C>G , CM000678.2:g.8797592C>G GRCh38
NC_000016.9:g.8891449C>G , CM000678.1:g.8891449C>G GRCh37
NC_000016.8:g.8798950C>G NCBI36
NG_009209.1:g.4780C>G
NG_033146.1:g.5057G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+20G>C (TMEM186) MANE Select ENSP00000331640.6:n.3+20G>C
ENST00000333050.6:c.3+20G>C (TMEM186) ENSP00000331640.6:n.3+20G>C
ENST00000564869.1:n.31+20G>C (TMEM186)
ENST00000566983.5:c.-15-4207C>G (PMM2) ENSP00000457956.1:n.-15-4207C>G
NM_015421.3:c.3+20G>C (TMEM186) NP_056236.2:n.3+20G>C
NM_015421.4:c.3+20G>C (TMEM186) MANE Select NP_056236.2:n.3+20G>C
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