Canonical Allele Identifier: CA7893807

Gene: TMEM186 PMM2

Linked Data

• dbSNP Id: rs145394389
• ExAC: 16:8891449 C / T
• gnomAD v2: 16-8891449-C-T
• gnomAD v3: 16-8797592-C-T
• gnomAD v4: 16-8797592-C-T
• MyVariant Identifiers: chr16:g.8891449C>T (hg19) ; chr16:g.8797592C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797592C>T , CM000678.2:g.8797592C>T	GRCh38
NC_000016.9:g.8891449C>T , CM000678.1:g.8891449C>T	GRCh37
NC_000016.8:g.8798950C>T	NCBI36
NG_009209.1:g.4780C>T
NG_033146.1:g.5057G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.3+20G>A (TMEM186) MANE Select	ENSP00000331640.6:n.3+20G>A
ENST00000333050.6:c.3+20G>A (TMEM186)	ENSP00000331640.6:n.3+20G>A
ENST00000564869.1:n.31+20G>A (TMEM186)
ENST00000566983.5:c.-15-4207C>T (PMM2)	ENSP00000457956.1:n.-15-4207C>T
NM_015421.3:c.3+20G>A (TMEM186)	NP_056236.2:n.3+20G>A
NM_015421.4:c.3+20G>A (TMEM186) MANE Select	NP_056236.2:n.3+20G>A