Canonical Allele Identifier: CA391067036
Community Standard Title: NM_014844.5(TECPR2):c.2753-1G>A
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102443646G>A , CM000676.2:g.102443646G>A GRCh38
NC_000014.8:g.102909983G>A , CM000676.1:g.102909983G>A GRCh37
NC_000014.7:g.101979736G>A NCBI36
NG_042851.1:g.85735G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.2753-1G>A MANE Select NP_055659.2:n.2753-1G>A
ENST00000359520.12:c.2753-1G>A MANE Select ENSP00000352510.7:n.2753-1G>A
NM_001172631.1:c.2753-1G>A NP_001166102.1:n.2753-1G>A
NM_001172631.2:c.2753-1G>A NP_001166102.1:n.2753-1G>A
NM_001172631.3:c.2753-1G>A NP_001166102.1:n.2753-1G>A
NM_014844.3:c.2753-1G>A NP_055659.2:n.2753-1G>A
NM_014844.4:c.2753-1G>A NP_055659.2:n.2753-1G>A
ENST00000359520.11:c.2753-1G>A ENSP00000352510.7:n.2753-1G>A
ENST00000557786.1:n.362-1G>A
ENST00000558678.1:c.2753-1G>A ENSP00000453671.1:n.2753-1G>A
ENST00000560060.5:n.549-1G>A
XM_005268246.2:c.2420-1G>A XP_005268303.1:n.2420-1G>A