Canonical Allele Identifier: CA277481205

Gene: TMEM186 PMM2

Linked Data

• dbSNP Id: rs916462898
• gnomAD v2: 16-8891477-C-T
• gnomAD v3: 16-8797620-C-T
• gnomAD v4: 16-8797620-C-T
• MyVariant Identifiers: chr16:g.8891477C>T (hg19) ; chr16:g.8797620C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797620C>T , CM000678.2:g.8797620C>T	GRCh38
NC_000016.9:g.8891477C>T , CM000678.1:g.8891477C>T	GRCh37
NC_000016.8:g.8798978C>T	NCBI36
NG_009209.1:g.4808C>T
NG_033146.1:g.5029G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.-6G>A (TMEM186) MANE Select	ENSP00000331640.6:n.-6G>A
ENST00000333050.6:c.-6G>A (TMEM186)	ENSP00000331640.6:n.-6G>A
ENST00000564869.1:n.23G>A (TMEM186)
ENST00000566983.5:c.-15-4179C>T (PMM2)	ENSP00000457956.1:n.-15-4179C>T
NM_015421.3:c.-6G>A (TMEM186)	NP_056236.2:n.-6G>A
NM_015421.4:c.-6G>A (TMEM186) MANE Select	NP_056236.2:n.-6G>A