Canonical Allele Identifier: CA7357479
Gene: TECPR2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.102414778C>T
GRCh37 chr14:g.102881115C>T
Revel Score:
ENST00000359520 (MANE Select) 0.129
ENST00000380088 0.129
gnomAD v2:
14:102881115 C / T
gnomAD v3:
14:102414778 C / T
gnomAD v4:
chr14-102414778-C-T
Joint Max Group AF 0.00376506 (AFR)
Genomes Max Group AF 0.00417516 (AFR)
Exomes Max Group AF 0.00292556 (AFR)
ClinVar RCV:
RCV000548770
RCV003915605
ClinVar Variation:
473092
dbSNP:
144870163
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102414778C>T , CM000676.2:g.102414778C>T GRCh38
NC_000014.8:g.102881115C>T , CM000676.1:g.102881115C>T GRCh37
NC_000014.7:g.101950868C>T NCBI36
NG_042851.1:g.56867C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359520.12:c.623C>T MANE Select ENSP00000352510.7:p.Thr208Ile
ENST00000359520.11:c.623C>T ENSP00000352510.7:p.Thr208Ile
ENST00000558678.1:c.623C>T ENSP00000453671.1:p.Thr208Ile
ENST00000561228.1:n.751C>T
NM_001172631.1:c.623C>T NP_001166102.1:p.Thr208Ile
NM_001172631.2:c.623C>T NP_001166102.1:p.Thr208Ile
NM_014844.3:c.623C>T NP_055659.2:p.Thr208Ile
NM_014844.4:c.623C>T NP_055659.2:p.Thr208Ile
XM_005268246.2:c.623C>T XP_005268303.1:p.Thr208Ile
XM_011537419.1:c.623C>T XP_011535721.1:p.Thr208Ile
NM_014844.5:c.623C>T MANE Select NP_055659.2:p.Thr208Ile
NM_001172631.3:c.623C>T NP_001166102.1:p.Thr208Ile
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