Canonical Allele Identifier: CA391069214

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102465186G>A , CM000676.2:g.102465186G>A	GRCh38
NC_000014.8:g.102931523G>A , CM000676.1:g.102931523G>A	GRCh37
NC_000014.7:g.102001276G>A	NCBI36
NG_042851.1:g.107275G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.3686G>A MANE Select	NP_055659.2:p.Trp1229Ter
ENST00000359520.12:c.3686G>A MANE Select	ENSP00000352510.7:p.Trp1229Ter
NM_001172631.1:c.3686G>A	NP_001166102.1:p.Trp1229Ter
NM_001172631.2:c.3686G>A	NP_001166102.1:p.Trp1229Ter
NM_001172631.3:c.3686G>A	NP_001166102.1:p.Trp1229Ter
NM_014844.3:c.3686G>A	NP_055659.2:p.Trp1229Ter
NM_014844.4:c.3686G>A	NP_055659.2:p.Trp1229Ter
ENST00000359520.11:c.3686G>A	ENSP00000352510.7:p.Trp1229Ter
ENST00000558678.1:c.3686G>A	ENSP00000453671.1:p.Trp1229Ter
XM_005268246.2:c.3353G>A	XP_005268303.1:p.Trp1118Ter