Canonical Allele Identifier: CA531977311

Gene: TMEM178A

Linked Data

• dbSNP Id: rs61303746
• gnomAD v2: 2-39939181-T-TTGTGTGTGTG
• gnomAD v3: 2-39712041-T-TTGTGTGTGTG
• gnomAD v4: 2-39712041-T-TTGTGTGTGTG
• MyVariant Identifiers: chr2:g.39939181_39939182insTGTGTGTGTG (hg19) ; chr2:g.39712041_39712042insTGTGTGTGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.39712069_39712078dup , CM000664.2:g.39712069_39712078dup	GRCh38
NC_000002.11:g.39939209_39939218dup , CM000664.1:g.39939209_39939218dup	GRCh37
NC_000002.10:g.39792713_39792722dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281961.3:c.652+4883_652+4892dup MANE Select	ENSP00000281961.2:n.652+4883_652+4892dup
ENST00000281961.2:c.652+4883_652+4892dup	ENSP00000281961.2:n.652+4883_652+4892dup
ENST00000413011.5:n.371+4883_371+4892dup
ENST00000482239.5:n.395+4883_395+4892dup
ENST00000495402.1:n.431+4883_431+4892dup
ENST00000618232.1:c.*42-4941_*42-4932dup	ENSP00000477622.1:n.*42-4941_*42-4932dup
NM_001167959.1:c.106+4883_106+4892dup	NP_001161431.1:n.106+4883_106+4892dup
NM_152390.2:c.652+4883_652+4892dup	NP_689603.2:n.652+4883_652+4892dup
XM_005264144.1:c.515-4941_515-4932dup	XP_005264201.1:n.515-4941_515-4932dup
XM_005264145.1:c.401-4941_401-4932dup	XP_005264202.1:n.401-4941_401-4932dup
XM_017003369.1:c.*527_*536dup	XP_016858858.1:n.*527_*536dup
XM_017003370.2:c.106+4883_106+4892dup	XP_016858859.1:n.106+4883_106+4892dup
XM_017003371.1:c.106+4883_106+4892dup	XP_016858860.1:n.106+4883_106+4892dup
XM_024452702.1:c.401-23160_401-23151dup	XP_024308470.1:n.401-23160_401-23151dup
XM_024452703.1:c.106+4883_106+4892dup	XP_024308471.1:n.106+4883_106+4892dup
XM_024452704.1:c.106+4883_106+4892dup	XP_024308472.1:n.106+4883_106+4892dup
XM_024452705.1:c.106+4883_106+4892dup	XP_024308473.1:n.106+4883_106+4892dup
NM_152390.3:c.652+4883_652+4892dup MANE Select	NP_689603.2:n.652+4883_652+4892dup
NM_001167959.2:c.106+4883_106+4892dup	NP_001161431.1:n.106+4883_106+4892dup