Canonical Allele Identifier: CA2631641388
Gene: TMEM186 HGNC NCBI
PMM2 HGNC NCBI

Linked Data

gnomAD v4: 16-8797624-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.8797624A>C , CM000678.2:g.8797624A>C GRCh38
NC_000016.9:g.8891481A>C , CM000678.1:g.8891481A>C GRCh37
NC_000016.8:g.8798982A>C NCBI36
NG_009209.1:g.4812A>C
NG_033146.1:g.5025T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333050.7:c.-10T>G (TMEM186) MANE Select ENSP00000331640.6:n.-10T>G
ENST00000333050.6:c.-10T>G (TMEM186) ENSP00000331640.6:n.-10T>G
ENST00000564869.1:n.19T>G (TMEM186)
ENST00000566983.5:c.-15-4175A>C (PMM2) ENSP00000457956.1:n.-15-4175A>C
NM_015421.3:c.-10T>G (TMEM186) NP_056236.2:n.-10T>G
NM_015421.4:c.-10T>G (TMEM186) MANE Select NP_056236.2:n.-10T>G