Canonical Allele Identifier: CA762496221

Gene: TMEFF2

Linked Data

• dbSNP Id: rs1400164306
• gnomAD v3: 2-192049843-T-TA
• gnomAD v4: 2-192049843-T-TA
• MyVariant Identifiers: chr2:g.192914569_192914570insA (hg19) ; chr2:g.192049843_192049844insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.192049844dup , CM000664.2:g.192049844dup	GRCh38
NC_000002.11:g.192914570dup , CM000664.1:g.192914570dup	GRCh37
NC_000002.10:g.192622815dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272771.10:c.536+7835dup MANE Select	ENSP00000272771.5:n.536+7835dup
ENST00000272771.9:c.536+7835dup	ENSP00000272771.5:n.536+7835dup
ENST00000392314.5:c.536+7835dup	ENSP00000376128.1:n.536+7835dup
NM_001305134.1:c.536+7835dup	NP_001292063.1:n.536+7835dup
NM_016192.2:c.536+7835dup	NP_057276.2:n.536+7835dup
NM_016192.3:c.536+7835dup	NP_057276.2:n.536+7835dup
XM_005246437.2:c.536+7835dup	XP_005246494.1:n.536+7835dup
XM_011510890.1:c.509+7835dup	XP_011509192.1:n.509+7835dup
XR_923721.1:n.172-760dup
XR_923722.1:n.172-760dup
XM_011510890.3:c.509+7835dup	XP_011509192.1:n.509+7835dup
XM_017003739.2:c.509+7835dup	XP_016859228.1:n.509+7835dup
XM_017003740.2:c.536+7835dup	XP_016859229.1:n.536+7835dup
XR_001739830.1:n.172-760dup
NM_016192.4:c.536+7835dup MANE Select	NP_057276.2:n.536+7835dup
NM_001305134.2:c.536+7835dup	NP_001292063.1:n.536+7835dup