Canonical Allele Identifier: CA620726852
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1353221215
gnomAD v2: 16-8891443-T-C
gnomAD v3: 16-8797586-T-C
gnomAD v4: 16-8797586-T-C
MyVariant Identifiers: chr16:g.8891443T>C (hg19) chr16:g.8797586T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797586T>C , CM000678.2:g.8797586T>C GRCh38
NC_000016.9:g.8891443T>C , CM000678.1:g.8891443T>C GRCh37
NC_000016.8:g.8798944T>C NCBI36
NG_009209.1:g.4774T>C
NG_033146.1:g.5063A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+26A>G (TMEM186) MANE Select ENSP00000331640.6:n.3+26A>G
ENST00000333050.6:c.3+26A>G (TMEM186) ENSP00000331640.6:n.3+26A>G
ENST00000564869.1:n.31+26A>G (TMEM186)
ENST00000566983.5:c.-15-4213T>C (PMM2) ENSP00000457956.1:n.-15-4213T>C
NM_015421.3:c.3+26A>G (TMEM186) NP_056236.2:n.3+26A>G
NM_015421.4:c.3+26A>G (TMEM186) MANE Select NP_056236.2:n.3+26A>G
Search 100 bp 5'
Search 100 bp 3'