Canonical Allele Identifier: CA391066530

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102440456G>T , CM000676.2:g.102440456G>T	GRCh38
NC_000014.8:g.102906793G>T , CM000676.1:g.102906793G>T	GRCh37
NC_000014.7:g.101976546G>T	NCBI36
NG_042851.1:g.82545G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.2599G>T MANE Select	NP_055659.2:p.Glu867Ter
ENST00000359520.12:c.2599G>T MANE Select	ENSP00000352510.7:p.Glu867Ter
NM_001172631.1:c.2599G>T	NP_001166102.1:p.Glu867Ter
NM_001172631.2:c.2599G>T	NP_001166102.1:p.Glu867Ter
NM_001172631.3:c.2599G>T	NP_001166102.1:p.Glu867Ter
NM_014844.3:c.2599G>T	NP_055659.2:p.Glu867Ter
NM_014844.4:c.2599G>T	NP_055659.2:p.Glu867Ter
ENST00000359520.11:c.2599G>T	ENSP00000352510.7:p.Glu867Ter
ENST00000557786.1:n.208G>T
ENST00000558678.1:c.2599G>T	ENSP00000453671.1:p.Glu867Ter
ENST00000560060.5:n.395G>T
XM_005268246.2:c.2266G>T	XP_005268303.1:p.Glu756Ter