Canonical Allele Identifier: CA7357522
Community Standard Title: NM_014844.5(TECPR2):c.762G>A (p.Thr254=)
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102425102G>A , CM000676.2:g.102425102G>A GRCh38
NC_000014.8:g.102891439G>A , CM000676.1:g.102891439G>A GRCh37
NC_000014.7:g.101961192G>A NCBI36
NG_042851.1:g.67191G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.762G>A MANE Select NP_055659.2:p.Thr254=
ENST00000359520.12:c.762G>A MANE Select ENSP00000352510.7:p.Thr254=
NM_001172631.1:c.762G>A NP_001166102.1:p.Thr254=
NM_001172631.2:c.762G>A NP_001166102.1:p.Thr254=
NM_001172631.3:c.762G>A NP_001166102.1:p.Thr254=
NM_014844.3:c.762G>A NP_055659.2:p.Thr254=
NM_014844.4:c.762G>A NP_055659.2:p.Thr254=
ENST00000359520.11:c.762G>A ENSP00000352510.7:p.Thr254=
ENST00000558678.1:c.762G>A ENSP00000453671.1:p.Thr254=
ENST00000561228.1:n.858G>A
XM_005268246.2:c.762G>A XP_005268303.1:p.Thr254=
XM_011537419.1:c.762G>A XP_011535721.1:p.Thr254=