Canonical Allele Identifier: CA7893803
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs7359467
ExAC: 16:8891447 G / C
gnomAD v2: 16-8891447-G-C
gnomAD v3: 16-8797590-G-C
gnomAD v4: 16-8797590-G-C
MyVariant Identifiers: chr16:g.8891447G>C (hg19) chr16:g.8797590G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797590G>C , CM000678.2:g.8797590G>C GRCh38
NC_000016.9:g.8891447G>C , CM000678.1:g.8891447G>C GRCh37
NC_000016.8:g.8798948G>C NCBI36
NG_009209.1:g.4778G>C
NG_033146.1:g.5059C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+22C>G (TMEM186) MANE Select ENSP00000331640.6:n.3+22C>G
ENST00000333050.6:c.3+22C>G (TMEM186) ENSP00000331640.6:n.3+22C>G
ENST00000564869.1:n.31+22C>G (TMEM186)
ENST00000566983.5:c.-15-4209G>C (PMM2) ENSP00000457956.1:n.-15-4209G>C
NM_015421.3:c.3+22C>G (TMEM186) NP_056236.2:n.3+22C>G
NM_015421.4:c.3+22C>G (TMEM186) MANE Select NP_056236.2:n.3+22C>G
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