Canonical Allele Identifier: CA45684874

Gene: TMEM178A

Linked Data

• dbSNP Id: rs61303746
• gnomAD v3: 2-39712041-TTG-T
• gnomAD v4: 2-39712041-TTG-T
• MyVariant Identifiers: chr2:g.39939182_39939183del (hg19) ; chr2:g.39712042_39712043del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712077_39712078del , CM000664.2:g.39712077_39712078del	GRCh38
NC_000002.11:g.39939217_39939218del , CM000664.1:g.39939217_39939218del	GRCh37
NC_000002.10:g.39792721_39792722del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4891_652+4892del MANE Select	ENSP00000281961.2:n.652+4891_652+4892del
ENST00000281961.2:c.652+4891_652+4892del	ENSP00000281961.2:n.652+4891_652+4892del
ENST00000413011.5:n.371+4891_371+4892del
ENST00000482239.5:n.395+4891_395+4892del
ENST00000495402.1:n.431+4891_431+4892del
ENST00000618232.1:c.*42-4933_*42-4932del	ENSP00000477622.1:n.*42-4933_*42-4932del
NM_001167959.1:c.106+4891_106+4892del	NP_001161431.1:n.106+4891_106+4892del
NM_152390.2:c.652+4891_652+4892del	NP_689603.2:n.652+4891_652+4892del
XM_005264144.1:c.515-4933_515-4932del	XP_005264201.1:n.515-4933_515-4932del
XM_005264145.1:c.401-4933_401-4932del	XP_005264202.1:n.401-4933_401-4932del
XM_017003369.1:c.*535_*536del	XP_016858858.1:n.*535_*536del
XM_017003370.2:c.106+4891_106+4892del	XP_016858859.1:n.106+4891_106+4892del
XM_017003371.1:c.106+4891_106+4892del	XP_016858860.1:n.106+4891_106+4892del
XM_024452702.1:c.401-23152_401-23151del	XP_024308470.1:n.401-23152_401-23151del
XM_024452703.1:c.106+4891_106+4892del	XP_024308471.1:n.106+4891_106+4892del
XM_024452704.1:c.106+4891_106+4892del	XP_024308472.1:n.106+4891_106+4892del
XM_024452705.1:c.106+4891_106+4892del	XP_024308473.1:n.106+4891_106+4892del
NM_152390.3:c.652+4891_652+4892del MANE Select	NP_689603.2:n.652+4891_652+4892del
NM_001167959.2:c.106+4891_106+4892del	NP_001161431.1:n.106+4891_106+4892del