Canonical Allele Identifier: CA7358282
Community Standard Title: NM_014844.5(TECPR2):c.3582G>A (p.Thr1194=)
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102452569G>A , CM000676.2:g.102452569G>A GRCh38
NC_000014.8:g.102918906G>A , CM000676.1:g.102918906G>A GRCh37
NC_000014.7:g.101988659G>A NCBI36
NG_042851.1:g.94658G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.3582G>A MANE Select NP_055659.2:p.Thr1194=
ENST00000359520.12:c.3582G>A MANE Select ENSP00000352510.7:p.Thr1194=
NM_001172631.1:c.3582G>A NP_001166102.1:p.Thr1194=
NM_001172631.2:c.3582G>A NP_001166102.1:p.Thr1194=
NM_001172631.3:c.3582G>A NP_001166102.1:p.Thr1194=
NM_014844.3:c.3582G>A NP_055659.2:p.Thr1194=
NM_014844.4:c.3582G>A NP_055659.2:p.Thr1194=
ENST00000359520.11:c.3582G>A ENSP00000352510.7:p.Thr1194=
ENST00000558678.1:c.3582G>A ENSP00000453671.1:p.Thr1194=
XM_005268246.2:c.3249G>A XP_005268303.1:p.Thr1083=