Canonical Allele Identifier: CA7357757
Gene: TECPR2 HGNC NCBI
MyVariant.info:
GRCh38 chr14:g.102434423G>C
GRCh37 chr14:g.102900760G>C
Revel Score:
ENST00000359520 (MANE Select) 0.064
ENST00000380088 0.064
gnomAD v2:
14:102900760 G / C
gnomAD v3:
14:102434423 G / C
gnomAD v4:
chr14-102434423-G-C
Joint Max Group AF 0.00104083 (EAS)
Genomes Max Group AF 0.0011897 (EAS)
Exomes Max Group AF 0.00093006 (EAS)
ClinVar RCV:
RCV000476819
RCV001848806
ClinVar Variation:
408914
dbSNP:
186595127
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102434423G>C , CM000676.2:g.102434423G>C GRCh38
NC_000014.8:g.102900760G>C , CM000676.1:g.102900760G>C GRCh37
NC_000014.7:g.101970513G>C NCBI36
NG_042851.1:g.76512G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000359520.12:c.1606G>C MANE Select ENSP00000352510.7:p.Gly536Arg
ENST00000359520.11:c.1606G>C ENSP00000352510.7:p.Gly536Arg
ENST00000558678.1:c.1606G>C ENSP00000453671.1:p.Gly536Arg
NM_001172631.1:c.1606G>C NP_001166102.1:p.Gly536Arg
NM_001172631.2:c.1606G>C NP_001166102.1:p.Gly536Arg
NM_014844.3:c.1606G>C NP_055659.2:p.Gly536Arg
NM_014844.4:c.1606G>C NP_055659.2:p.Gly536Arg
XM_005268246.2:c.1273G>C XP_005268303.1:p.Gly425Arg
XM_011537419.1:c.1606G>C XP_011535721.1:p.Gly536Arg
NM_014844.5:c.1606G>C MANE Select NP_055659.2:p.Gly536Arg
NM_001172631.3:c.1606G>C NP_001166102.1:p.Gly536Arg
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