Canonical Allele Identifier: CA391040248
Community Standard Title: NM_014844.5(TECPR2):c.34G>T (p.Glu12Ter)
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102376755G>T , CM000676.2:g.102376755G>T GRCh38
NC_000014.8:g.102843092G>T , CM000676.1:g.102843092G>T GRCh37
NC_000014.7:g.101912845G>T NCBI36
NG_042851.1:g.18844G>T

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.34G>T MANE Select NP_055659.2:p.Glu12Ter
ENST00000359520.12:c.34G>T MANE Select ENSP00000352510.7:p.Glu12Ter
NM_001172631.1:c.34G>T NP_001166102.1:p.Glu12Ter
NM_001172631.2:c.34G>T NP_001166102.1:p.Glu12Ter
NM_001172631.3:c.34G>T NP_001166102.1:p.Glu12Ter
NM_014844.3:c.34G>T NP_055659.2:p.Glu12Ter
NM_014844.4:c.34G>T NP_055659.2:p.Glu12Ter
ENST00000359520.11:c.34G>T ENSP00000352510.7:p.Glu12Ter
ENST00000558678.1:c.34G>T ENSP00000453671.1:p.Glu12Ter
ENST00000561228.1:n.162G>T
XM_005268246.2:c.34G>T XP_005268303.1:p.Glu12Ter
XM_011537419.1:c.34G>T XP_011535721.1:p.Glu12Ter