Canonical Allele Identifier: CA2631641363

Gene: TMEM186 PMM2

Linked Data

• gnomAD v4: 16-8797615-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.8797615G>T , CM000678.2:g.8797615G>T	GRCh38
NC_000016.9:g.8891472G>T , CM000678.1:g.8891472G>T	GRCh37
NC_000016.8:g.8798973G>T	NCBI36
NG_009209.1:g.4803G>T
NG_033146.1:g.5034C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333050.7:c.-1C>A (TMEM186) MANE Select	ENSP00000331640.6:n.-1C>A
ENST00000333050.6:c.-1C>A (TMEM186)	ENSP00000331640.6:n.-1C>A
ENST00000564869.1:n.28C>A (TMEM186)
ENST00000566983.5:c.-15-4184G>T (PMM2)	ENSP00000457956.1:n.-15-4184G>T
NM_015421.3:c.-1C>A (TMEM186)	NP_056236.2:n.-1C>A
NM_015421.4:c.-1C>A (TMEM186) MANE Select	NP_056236.2:n.-1C>A