Canonical Allele Identifier: CA7357740

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 240923
• ClinVar RCV Id: RCV000225996 ; RCV001847978 ; RCV002518351 ; RCV003401181
• dbSNP Id: rs751957510
• ExAC: 14:102900625 G / A
• gnomAD v2: 14-102900625-G-A
• gnomAD v3: 14-102434288-G-A
• gnomAD v4: 14-102434288-G-A
• COSMIC: COSM264001
• MyVariant Identifiers: chr14:g.102900625G>A (hg19) ; chr14:g.102434288G>A (hg38)

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