Canonical Allele Identifier: CA2206128084
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797632C= , CM000678.2:g.8797632C= GRCh38
NC_000016.9:g.8891489C= , CM000678.1:g.8891489C= GRCh37
NC_000016.8:g.8798990C= NCBI36
NG_009209.1:g.4820C=
NG_033146.1:g.5017G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-18G= (TMEM186) MANE Select ENSP00000331640.6:n.-18G=
ENST00000333050.6:c.-18G= (TMEM186) ENSP00000331640.6:n.-18G=
ENST00000564869.1:n.11G= (TMEM186)
ENST00000566983.5:c.-15-4167C= (PMM2) ENSP00000457956.1:n.-15-4167C=
NM_015421.3:c.-18G= (TMEM186) NP_056236.2:n.-18G=
NM_015421.4:c.-18G= (TMEM186) MANE Select NP_056236.2:n.-18G=