Canonical Allele Identifier: CA391066138

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102438206G>A , CM000676.2:g.102438206G>A	GRCh38
NC_000014.8:g.102904543G>A , CM000676.1:g.102904543G>A	GRCh37
NC_000014.7:g.101974296G>A	NCBI36
NG_042851.1:g.80295G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.2578+1G>A MANE Select	NP_055659.2:n.2578+1G>A
ENST00000359520.12:c.2578+1G>A MANE Select	ENSP00000352510.7:n.2578+1G>A
NM_001172631.1:c.2578+1G>A	NP_001166102.1:n.2578+1G>A
NM_001172631.2:c.2578+1G>A	NP_001166102.1:n.2578+1G>A
NM_001172631.3:c.2578+1G>A	NP_001166102.1:n.2578+1G>A
NM_014844.3:c.2578+1G>A	NP_055659.2:n.2578+1G>A
NM_014844.4:c.2578+1G>A	NP_055659.2:n.2578+1G>A
ENST00000359520.11:c.2578+1G>A	ENSP00000352510.7:n.2578+1G>A
ENST00000558678.1:c.2578+1G>A	ENSP00000453671.1:n.2578+1G>A
ENST00000560060.5:n.374+1G>A
XM_005268246.2:c.2245+1G>A	XP_005268303.1:n.2245+1G>A