Canonical Allele Identifier: CA7357677

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102431966G>A , CM000676.2:g.102431966G>A	GRCh38
NC_000014.8:g.102898303G>A , CM000676.1:g.102898303G>A	GRCh37
NC_000014.7:g.101968056G>A	NCBI36
NG_042851.1:g.74055G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.1255G>A MANE Select	NP_055659.2:p.Gly419Ser
ENST00000359520.12:c.1255G>A MANE Select	ENSP00000352510.7:p.Gly419Ser
NM_001172631.1:c.1255G>A	NP_001166102.1:p.Gly419Ser
NM_001172631.2:c.1255G>A	NP_001166102.1:p.Gly419Ser
NM_001172631.3:c.1255G>A	NP_001166102.1:p.Gly419Ser
NM_014844.3:c.1255G>A	NP_055659.2:p.Gly419Ser
NM_014844.4:c.1255G>A	NP_055659.2:p.Gly419Ser
ENST00000359520.11:c.1255G>A	ENSP00000352510.7:p.Gly419Ser
ENST00000558678.1:c.1255G>A	ENSP00000453671.1:p.Gly419Ser
XM_005268246.2:c.1085-2269G>A	XP_005268303.1:n.1085-2269G>A
XM_011537419.1:c.1255G>A	XP_011535721.1:p.Gly419Ser