Canonical Allele Identifier: CA63069453

Gene: TMEFF2

Linked Data

• dbSNP Id: rs887633863
• gnomAD v3: 2-192049949-TGA-T
• gnomAD v4: 2-192049949-TGA-T
• MyVariant Identifiers: chr2:g.192914676_192914677del (hg19) ; chr2:g.192049950_192049951del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.192049952_192049953del , CM000664.2:g.192049952_192049953del	GRCh38
NC_000002.11:g.192914678_192914679del , CM000664.1:g.192914678_192914679del	GRCh37
NC_000002.10:g.192622923_192622924del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272771.10:c.536+7728_536+7729del MANE Select	ENSP00000272771.5:n.536+7728_536+7729del
ENST00000272771.9:c.536+7728_536+7729del	ENSP00000272771.5:n.536+7728_536+7729del
ENST00000392314.5:c.536+7728_536+7729del	ENSP00000376128.1:n.536+7728_536+7729del
NM_001305134.1:c.536+7728_536+7729del	NP_001292063.1:n.536+7728_536+7729del
NM_016192.2:c.536+7728_536+7729del	NP_057276.2:n.536+7728_536+7729del
NM_016192.3:c.536+7728_536+7729del	NP_057276.2:n.536+7728_536+7729del
XM_005246437.2:c.536+7728_536+7729del	XP_005246494.1:n.536+7728_536+7729del
XM_011510890.1:c.509+7728_509+7729del	XP_011509192.1:n.509+7728_509+7729del
XR_923721.1:n.172-652_172-651del
XR_923722.1:n.172-652_172-651del
XM_011510890.3:c.509+7728_509+7729del	XP_011509192.1:n.509+7728_509+7729del
XM_017003739.2:c.509+7728_509+7729del	XP_016859228.1:n.509+7728_509+7729del
XM_017003740.2:c.536+7728_536+7729del	XP_016859229.1:n.536+7728_536+7729del
XR_001739830.1:n.172-652_172-651del
NM_016192.4:c.536+7728_536+7729del MANE Select	NP_057276.2:n.536+7728_536+7729del
NM_001305134.2:c.536+7728_536+7729del	NP_001292063.1:n.536+7728_536+7729del