Canonical Allele Identifier: CA7357772
Community Standard Title: NM_014844.5(TECPR2):c.1704T>G (p.Thr568=)
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102434521T>G , CM000676.2:g.102434521T>G GRCh38
NC_000014.8:g.102900858T>G , CM000676.1:g.102900858T>G GRCh37
NC_000014.7:g.101970611T>G NCBI36
NG_042851.1:g.76610T>G

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.1704T>G MANE Select NP_055659.2:p.Thr568=
ENST00000359520.12:c.1704T>G MANE Select ENSP00000352510.7:p.Thr568=
NM_001172631.1:c.1704T>G NP_001166102.1:p.Thr568=
NM_001172631.2:c.1704T>G NP_001166102.1:p.Thr568=
NM_001172631.3:c.1704T>G NP_001166102.1:p.Thr568=
NM_014844.3:c.1704T>G NP_055659.2:p.Thr568=
NM_014844.4:c.1704T>G NP_055659.2:p.Thr568=
ENST00000359520.11:c.1704T>G ENSP00000352510.7:p.Thr568=
ENST00000558678.1:c.1704T>G ENSP00000453671.1:p.Thr568=
XM_005268246.2:c.1371T>G XP_005268303.1:p.Thr457=
XM_011537419.1:c.1704T>G XP_011535721.1:p.Thr568=