Canonical Allele Identifier: CA7893814

Gene: TMEM186 PMM2

Linked Data

• ClinVar Variation Id: 702357
• ClinVar RCV Id: RCV000871399 ; RCV001817006
• dbSNP Id: rs147436106
• ExAC: 16:8891471 T / C
• gnomAD v2: 16-8891471-T-C
• gnomAD v3: 16-8797614-T-C
• gnomAD v4: 16-8797614-T-C
• MyVariant Identifiers: chr16:g.8891471T>C (hg19) ; chr16:g.8797614T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797614T>C , CM000678.2:g.8797614T>C	GRCh38
NC_000016.9:g.8891471T>C , CM000678.1:g.8891471T>C	GRCh37
NC_000016.8:g.8798972T>C	NCBI36
NG_009209.1:g.4802T>C
NG_033146.1:g.5035A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.1A>G (TMEM186) MANE Select	ENSP00000331640.6:p.Met1Val
ENST00000333050.6:c.1A>G (TMEM186)	ENSP00000331640.6:p.Met1Val
ENST00000564869.1:n.29A>G (TMEM186)
ENST00000566983.5:c.-15-4185T>C (PMM2)	ENSP00000457956.1:n.-15-4185T>C
NM_015421.3:c.1A>G (TMEM186)	NP_056236.2:p.Met1Val
NM_015421.4:c.1A>G (TMEM186) MANE Select	NP_056236.2:p.Met1Val