Canonical Allele Identifier: CA762496339

Gene: TMEFF2

Linked Data

• dbSNP Id: rs1378558612
• gnomAD v3: 2-192050012-CAAAA-C
• gnomAD v4: 2-192050012-CAAAA-C
• MyVariant Identifiers: chr2:g.192914739_192914742del (hg19) ; chr2:g.192050013_192050016del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.192050016_192050019del , CM000664.2:g.192050016_192050019del	GRCh38
NC_000002.11:g.192914742_192914745del , CM000664.1:g.192914742_192914745del	GRCh37
NC_000002.10:g.192622987_192622990del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272771.10:c.536+7663_536+7666del MANE Select	ENSP00000272771.5:n.536+7663_536+7666del
ENST00000272771.9:c.536+7663_536+7666del	ENSP00000272771.5:n.536+7663_536+7666del
ENST00000392314.5:c.536+7663_536+7666del	ENSP00000376128.1:n.536+7663_536+7666del
NM_001305134.1:c.536+7663_536+7666del	NP_001292063.1:n.536+7663_536+7666del
NM_016192.2:c.536+7663_536+7666del	NP_057276.2:n.536+7663_536+7666del
NM_016192.3:c.536+7663_536+7666del	NP_057276.2:n.536+7663_536+7666del
XM_005246437.2:c.536+7663_536+7666del	XP_005246494.1:n.536+7663_536+7666del
XM_011510890.1:c.509+7663_509+7666del	XP_011509192.1:n.509+7663_509+7666del
XR_923721.1:n.172-588_172-585del
XR_923722.1:n.172-588_172-585del
XM_011510890.3:c.509+7663_509+7666del	XP_011509192.1:n.509+7663_509+7666del
XM_017003739.2:c.509+7663_509+7666del	XP_016859228.1:n.509+7663_509+7666del
XM_017003740.2:c.536+7663_536+7666del	XP_016859229.1:n.536+7663_536+7666del
XR_001739830.1:n.172-588_172-585del
NM_016192.4:c.536+7663_536+7666del MANE Select	NP_057276.2:n.536+7663_536+7666del
NM_001305134.2:c.536+7663_536+7666del	NP_001292063.1:n.536+7663_536+7666del