Canonical Allele Identifier: CA394694733

Gene: TMEM186 PMM2

Linked Data

• gnomAD v4: 16-8797611-C-A
• MyVariant Identifiers: chr16:g.8891468C>A (hg19) ; chr16:g.8797611C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797611C>A , CM000678.2:g.8797611C>A	GRCh38
NC_000016.9:g.8891468C>A , CM000678.1:g.8891468C>A	GRCh37
NC_000016.8:g.8798969C>A	NCBI36
NG_009209.1:g.4799C>A
NG_033146.1:g.5038G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.3+1G>T (TMEM186) MANE Select	ENSP00000331640.6:n.3+1G>T
ENST00000333050.6:c.3+1G>T (TMEM186)	ENSP00000331640.6:n.3+1G>T
ENST00000564869.1:n.31+1G>T (TMEM186)
ENST00000566983.5:c.-15-4188C>A (PMM2)	ENSP00000457956.1:n.-15-4188C>A
NM_015421.3:c.3+1G>T (TMEM186)	NP_056236.2:n.3+1G>T
NM_015421.4:c.3+1G>T (TMEM186) MANE Select	NP_056236.2:n.3+1G>T