Canonical Allele Identifier: CA7893821

Gene: TMEM186 PMM2

Linked Data

• dbSNP Id: rs559000679
• ExAC: 16:8891492 G / A
• gnomAD v2: 16-8891492-G-A
• gnomAD v3: 16-8797635-G-A
• gnomAD v4: 16-8797635-G-A
• MyVariant Identifiers: chr16:g.8891492G>A (hg19) ; chr16:g.8797635G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797635G>A , CM000678.2:g.8797635G>A	GRCh38
NC_000016.9:g.8891492G>A , CM000678.1:g.8891492G>A	GRCh37
NC_000016.8:g.8798993G>A	NCBI36
NG_009209.1:g.4823G>A
NG_033146.1:g.5014C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.-21C>T (TMEM186) MANE Select	ENSP00000331640.6:n.-21C>T
ENST00000333050.6:c.-21C>T (TMEM186)	ENSP00000331640.6:n.-21C>T
ENST00000564869.1:n.8C>T (TMEM186)
ENST00000566983.5:c.-15-4164G>A (PMM2)	ENSP00000457956.1:n.-15-4164G>A
NM_015421.3:c.-21C>T (TMEM186)	NP_056236.2:n.-21C>T
NM_015421.4:c.-21C>T (TMEM186) MANE Select	NP_056236.2:n.-21C>T