Canonical Allele Identifier: CA7357740
Gene: TECPR2 HGNC NCBI
COSMIC:
COSM264001
MyVariant.info:
GRCh38 chr14:g.102434288G>A
GRCh37 chr14:g.102900625G>A
Revel Score:
ENST00000359520 (MANE Select) 0.143
ENST00000380088 0.143
gnomAD v2:
14:102900625 G / A
gnomAD v3:
14:102434288 G / A
gnomAD v4:
chr14-102434288-G-A
Joint Max Group AF 0.00009887 (NFE)
Genomes Max Group AF 0.00002847 (NFE)
Exomes Max Group AF 0.0001007 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.102434288G>A , CM000676.2:g.102434288G>A GRCh38
NC_000014.8:g.102900625G>A , CM000676.1:g.102900625G>A GRCh37
NC_000014.7:g.101970378G>A NCBI36
NG_042851.1:g.76377G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359520.12:c.1471G>A MANE Select ENSP00000352510.7:p.Glu491Lys
ENST00000359520.11:c.1471G>A ENSP00000352510.7:p.Glu491Lys
ENST00000558678.1:c.1471G>A ENSP00000453671.1:p.Glu491Lys
NM_001172631.1:c.1471G>A NP_001166102.1:p.Glu491Lys
NM_001172631.2:c.1471G>A NP_001166102.1:p.Glu491Lys
NM_014844.3:c.1471G>A NP_055659.2:p.Glu491Lys
NM_014844.4:c.1471G>A NP_055659.2:p.Glu491Lys
XM_005268246.2:c.1138G>A XP_005268303.1:p.Glu380Lys
XM_011537419.1:c.1471G>A XP_011535721.1:p.Glu491Lys
NM_014844.5:c.1471G>A MANE Select NP_055659.2:p.Glu491Lys
NM_001172631.3:c.1471G>A NP_001166102.1:p.Glu491Lys
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