Canonical Allele Identifier: CA531977328

Gene: TMEM178A

Linked Data

• dbSNP Id: rs890103318
• gnomAD v2: 2-39939225-T-G
• gnomAD v3: 2-39712085-T-G
• gnomAD v4: 2-39712085-T-G
• MyVariant Identifiers: chr2:g.39939225T>G (hg19) ; chr2:g.39712085T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712085T>G , CM000664.2:g.39712085T>G	GRCh38
NC_000002.11:g.39939225T>G , CM000664.1:g.39939225T>G	GRCh37
NC_000002.10:g.39792729T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4899T>G MANE Select	ENSP00000281961.2:n.652+4899T>G
ENST00000281961.2:c.652+4899T>G	ENSP00000281961.2:n.652+4899T>G
ENST00000413011.5:n.371+4899T>G
ENST00000482239.5:n.395+4899T>G
ENST00000495402.1:n.431+4899T>G
ENST00000618232.1:c.*42-4925T>G	ENSP00000477622.1:n.*42-4925T>G
NM_001167959.1:c.106+4899T>G	NP_001161431.1:n.106+4899T>G
NM_152390.2:c.652+4899T>G	NP_689603.2:n.652+4899T>G
XM_005264144.1:c.515-4925T>G	XP_005264201.1:n.515-4925T>G
XM_005264145.1:c.401-4925T>G	XP_005264202.1:n.401-4925T>G
XM_017003369.1:c.*543T>G	XP_016858858.1:n.*543T>G
XM_017003370.2:c.106+4899T>G	XP_016858859.1:n.106+4899T>G
XM_017003371.1:c.106+4899T>G	XP_016858860.1:n.106+4899T>G
XM_024452702.1:c.401-23144T>G	XP_024308470.1:n.401-23144T>G
XM_024452703.1:c.106+4899T>G	XP_024308471.1:n.106+4899T>G
XM_024452704.1:c.106+4899T>G	XP_024308472.1:n.106+4899T>G
XM_024452705.1:c.106+4899T>G	XP_024308473.1:n.106+4899T>G
NM_152390.3:c.652+4899T>G MANE Select	NP_689603.2:n.652+4899T>G
NM_001167959.2:c.106+4899T>G	NP_001161431.1:n.106+4899T>G