Canonical Allele Identifier: CA2631641381
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797621-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797621A>G , CM000678.2:g.8797621A>G GRCh38
NC_000016.9:g.8891478A>G , CM000678.1:g.8891478A>G GRCh37
NC_000016.8:g.8798979A>G NCBI36
NG_009209.1:g.4809A>G
NG_033146.1:g.5028T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-7T>C (TMEM186) MANE Select ENSP00000331640.6:n.-7T>C
ENST00000333050.6:c.-7T>C (TMEM186) ENSP00000331640.6:n.-7T>C
ENST00000564869.1:n.22T>C (TMEM186)
ENST00000566983.5:c.-15-4178A>G (PMM2) ENSP00000457956.1:n.-15-4178A>G
NM_015421.3:c.-7T>C (TMEM186) NP_056236.2:n.-7T>C
NM_015421.4:c.-7T>C (TMEM186) MANE Select NP_056236.2:n.-7T>C