Canonical Allele Identifier: CA267057411

Gene: TECPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102434460A>G , CM000676.2:g.102434460A>G	GRCh38
NC_000014.8:g.102900797A>G , CM000676.1:g.102900797A>G	GRCh37
NC_000014.7:g.101970550A>G	NCBI36
NG_042851.1:g.76549A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_014844.5:c.1643A>G MANE Select	NP_055659.2:p.Asn548Ser
ENST00000359520.12:c.1643A>G MANE Select	ENSP00000352510.7:p.Asn548Ser
NM_001172631.1:c.1643A>G	NP_001166102.1:p.Asn548Ser
NM_001172631.2:c.1643A>G	NP_001166102.1:p.Asn548Ser
NM_001172631.3:c.1643A>G	NP_001166102.1:p.Asn548Ser
NM_014844.3:c.1643A>G	NP_055659.2:p.Asn548Ser
NM_014844.4:c.1643A>G	NP_055659.2:p.Asn548Ser
ENST00000359520.11:c.1643A>G	ENSP00000352510.7:p.Asn548Ser
ENST00000558678.1:c.1643A>G	ENSP00000453671.1:p.Asn548Ser
XM_005268246.2:c.1310A>G	XP_005268303.1:p.Asn437Ser
XM_011537419.1:c.1643A>G	XP_011535721.1:p.Asn548Ser