Canonical Allele Identifier: CA620726892
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs1359678944
gnomAD v2: 16-8891494-A-C
gnomAD v3: 16-8797637-A-C
gnomAD v4: 16-8797637-A-C
MyVariant Identifiers: chr16:g.8891494A>C (hg19) chr16:g.8797637A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797637A>C , CM000678.2:g.8797637A>C GRCh38
NC_000016.9:g.8891494A>C , CM000678.1:g.8891494A>C GRCh37
NC_000016.8:g.8798995A>C NCBI36
NG_009209.1:g.4825A>C
NG_033146.1:g.5012T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-23T>G (TMEM186) MANE Select ENSP00000331640.6:n.-23T>G
ENST00000333050.6:c.-23T>G (TMEM186) ENSP00000331640.6:n.-23T>G
ENST00000564869.1:n.6T>G (TMEM186)
ENST00000566983.5:c.-15-4162A>C (PMM2) ENSP00000457956.1:n.-15-4162A>C
NM_015421.3:c.-23T>G (TMEM186) NP_056236.2:n.-23T>G
NM_015421.4:c.-23T>G (TMEM186) MANE Select NP_056236.2:n.-23T>G
Search 100 bp 5'
Search 100 bp 3'