Canonical Allele Identifier: CA391065990

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102438159G>A , CM000676.2:g.102438159G>A	GRCh38
NC_000014.8:g.102904496G>A , CM000676.1:g.102904496G>A	GRCh37
NC_000014.7:g.101974249G>A	NCBI36
NG_042851.1:g.80248G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.2532G>A MANE Select	NP_055659.2:p.Trp844Ter
ENST00000359520.12:c.2532G>A MANE Select	ENSP00000352510.7:p.Trp844Ter
NM_001172631.1:c.2532G>A	NP_001166102.1:p.Trp844Ter
NM_001172631.2:c.2532G>A	NP_001166102.1:p.Trp844Ter
NM_001172631.3:c.2532G>A	NP_001166102.1:p.Trp844Ter
NM_014844.3:c.2532G>A	NP_055659.2:p.Trp844Ter
NM_014844.4:c.2532G>A	NP_055659.2:p.Trp844Ter
ENST00000359520.11:c.2532G>A	ENSP00000352510.7:p.Trp844Ter
ENST00000558678.1:c.2532G>A	ENSP00000453671.1:p.Trp844Ter
ENST00000560060.5:n.328G>A
XM_005268246.2:c.2199G>A	XP_005268303.1:p.Trp733Ter