Canonical Allele Identifier: CA2206128064
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

dbSNP Id: rs2060585288
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797605T>C , CM000678.2:g.8797605T>C GRCh38
NC_000016.9:g.8891462T>C , CM000678.1:g.8891462T>C GRCh37
NC_000016.8:g.8798963T>C NCBI36
NG_009209.1:g.4793T>C
NG_033146.1:g.5044A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+7A>G (TMEM186) MANE Select ENSP00000331640.6:n.3+7A>G
ENST00000333050.6:c.3+7A>G (TMEM186) ENSP00000331640.6:n.3+7A>G
ENST00000564869.1:n.31+7A>G (TMEM186)
ENST00000566983.5:c.-15-4194T>C (PMM2) ENSP00000457956.1:n.-15-4194T>C
NM_015421.3:c.3+7A>G (TMEM186) NP_056236.2:n.3+7A>G
NM_015421.4:c.3+7A>G (TMEM186) MANE Select NP_056236.2:n.3+7A>G
Search 100 bp 5'
Search 100 bp 3'