Canonical Allele Identifier: CA277481197

Gene: TMEM186 PMM2

Linked Data

• dbSNP Id: rs757792159
• gnomAD v2: 16-8891458-C-T
• gnomAD v3: 16-8797601-C-T
• gnomAD v4: 16-8797601-C-T
• MyVariant Identifiers: chr16:g.8891458C>T (hg19) ; chr16:g.8797601C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797601C>T , CM000678.2:g.8797601C>T	GRCh38
NC_000016.9:g.8891458C>T , CM000678.1:g.8891458C>T	GRCh37
NC_000016.8:g.8798959C>T	NCBI36
NG_009209.1:g.4789C>T
NG_033146.1:g.5048G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.3+11G>A (TMEM186) MANE Select	ENSP00000331640.6:n.3+11G>A
ENST00000333050.6:c.3+11G>A (TMEM186)	ENSP00000331640.6:n.3+11G>A
ENST00000564869.1:n.31+11G>A (TMEM186)
ENST00000566983.5:c.-15-4198C>T (PMM2)	ENSP00000457956.1:n.-15-4198C>T
NM_015421.3:c.3+11G>A (TMEM186)	NP_056236.2:n.3+11G>A
NM_015421.4:c.3+11G>A (TMEM186) MANE Select	NP_056236.2:n.3+11G>A