Canonical Allele Identifier: CA391049034
Community Standard Title: NM_014844.5(TECPR2):c.951+1G>C
Gene: TECPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102425292G>C , CM000676.2:g.102425292G>C GRCh38
NC_000014.8:g.102891629G>C , CM000676.1:g.102891629G>C GRCh37
NC_000014.7:g.101961382G>C NCBI36
NG_042851.1:g.67381G>C

Transcript Alleles

HGVS Amino-acid Change
NM_014844.5:c.951+1G>C MANE Select NP_055659.2:n.951+1G>C
ENST00000359520.12:c.951+1G>C MANE Select ENSP00000352510.7:n.951+1G>C
NM_001172631.1:c.951+1G>C NP_001166102.1:n.951+1G>C
NM_001172631.2:c.951+1G>C NP_001166102.1:n.951+1G>C
NM_001172631.3:c.951+1G>C NP_001166102.1:n.951+1G>C
NM_014844.3:c.951+1G>C NP_055659.2:n.951+1G>C
NM_014844.4:c.951+1G>C NP_055659.2:n.951+1G>C
ENST00000359520.11:c.951+1G>C ENSP00000352510.7:n.951+1G>C
ENST00000558678.1:c.951+1G>C ENSP00000453671.1:n.951+1G>C
XM_005268246.2:c.951+1G>C XP_005268303.1:n.951+1G>C
XM_011537419.1:c.951+1G>C XP_011535721.1:n.951+1G>C