Canonical Allele Identifier: CA2833558569

Gene: TMEFF2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.192049753G>A , CM000664.2:g.192049753G>A	GRCh38
NC_000002.11:g.192914479G>A , CM000664.1:g.192914479G>A	GRCh37
NC_000002.10:g.192622724G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272771.10:c.536+7926C>T MANE Select	ENSP00000272771.5:n.536+7926C>T
ENST00000272771.9:c.536+7926C>T	ENSP00000272771.5:n.536+7926C>T
ENST00000392314.5:c.536+7926C>T	ENSP00000376128.1:n.536+7926C>T
NM_001305134.1:c.536+7926C>T	NP_001292063.1:n.536+7926C>T
NM_016192.2:c.536+7926C>T	NP_057276.2:n.536+7926C>T
NM_016192.3:c.536+7926C>T	NP_057276.2:n.536+7926C>T
XM_005246437.2:c.536+7926C>T	XP_005246494.1:n.536+7926C>T
XM_011510890.1:c.509+7926C>T	XP_011509192.1:n.509+7926C>T
XR_923721.1:n.172-851G>A
XR_923722.1:n.172-851G>A
XM_011510890.3:c.509+7926C>T	XP_011509192.1:n.509+7926C>T
XM_017003739.2:c.509+7926C>T	XP_016859228.1:n.509+7926C>T
XM_017003740.2:c.536+7926C>T	XP_016859229.1:n.536+7926C>T
XR_001739830.1:n.172-851G>A
NM_016192.4:c.536+7926C>T MANE Select	NP_057276.2:n.536+7926C>T
NM_001305134.2:c.536+7926C>T	NP_001292063.1:n.536+7926C>T