Canonical Allele Identifier: CA2206128071
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797614T= , CM000678.2:g.8797614T= GRCh38
NC_000016.9:g.8891471T= , CM000678.1:g.8891471T= GRCh37
NC_000016.8:g.8798972T= NCBI36
NG_009209.1:g.4802T=
NG_033146.1:g.5035A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.1A= (TMEM186) MANE Select ENSP00000331640.6:p.Met1=
ENST00000333050.6:c.1A= (TMEM186) ENSP00000331640.6:p.Met1=
ENST00000564869.1:n.29A= (TMEM186)
ENST00000566983.5:c.-15-4185T= (PMM2) ENSP00000457956.1:n.-15-4185T=
NM_015421.3:c.1A= (TMEM186) NP_056236.2:p.Met1=
NM_015421.4:c.1A= (TMEM186) MANE Select NP_056236.2:p.Met1=