Canonical Allele Identifier: CA2206128054
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797595G= , CM000678.2:g.8797595G= GRCh38
NC_000016.9:g.8891452G= , CM000678.1:g.8891452G= GRCh37
NC_000016.8:g.8798953G= NCBI36
NG_009209.1:g.4783G=
NG_033146.1:g.5054C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.3+17C= (TMEM186) MANE Select ENSP00000331640.6:n.3+17C=
ENST00000333050.6:c.3+17C= (TMEM186) ENSP00000331640.6:n.3+17C=
ENST00000564869.1:n.31+17C= (TMEM186)
ENST00000566983.5:c.-15-4204G= (PMM2) ENSP00000457956.1:n.-15-4204G=
NM_015421.3:c.3+17C= (TMEM186) NP_056236.2:n.3+17C=
NM_015421.4:c.3+17C= (TMEM186) MANE Select NP_056236.2:n.3+17C=