Canonical Allele Identifier: CA391067932
Community Standard Title: NM_014844.5(TECPR2):c.3106C>T (p.Gln1036Ter)
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102449659C>T , CM000676.2:g.102449659C>T GRCh38
NC_000014.8:g.102915996C>T , CM000676.1:g.102915996C>T GRCh37
NC_000014.7:g.101985749C>T NCBI36
NG_042851.1:g.91748C>T

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.3106C>T MANE Select NP_055659.2:p.Gln1036Ter
ENST00000359520.12:c.3106C>T MANE Select ENSP00000352510.7:p.Gln1036Ter
NM_001172631.1:c.3106C>T NP_001166102.1:p.Gln1036Ter
NM_001172631.2:c.3106C>T NP_001166102.1:p.Gln1036Ter
NM_001172631.3:c.3106C>T NP_001166102.1:p.Gln1036Ter
NM_014844.3:c.3106C>T NP_055659.2:p.Gln1036Ter
NM_014844.4:c.3106C>T NP_055659.2:p.Gln1036Ter
ENST00000359520.11:c.3106C>T ENSP00000352510.7:p.Gln1036Ter
ENST00000558678.1:c.3106C>T ENSP00000453671.1:p.Gln1036Ter
XM_005268246.2:c.2773C>T XP_005268303.1:p.Gln925Ter