Canonical Allele Identifier: CA7357821

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 408916
• ClinVar RCV Id: RCV000472228 ; RCV001507864 ; RCV001844164 ; RCV001848807 ; RCV002252133 ; RCV002525577
• dbSNP Id: rs144915346
• ExAC: 14:102901135 G / A
• gnomAD v2: 14-102901135-G-A
• gnomAD v3: 14-102434798-G-A
• gnomAD v4: 14-102434798-G-A
• MyVariant Identifiers: chr14:g.102901135G>A (hg19) ; chr14:g.102434798G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102434798G>A , CM000676.2:g.102434798G>A	GRCh38
NC_000014.8:g.102901135G>A , CM000676.1:g.102901135G>A	GRCh37
NC_000014.7:g.101970888G>A	NCBI36
NG_042851.1:g.76887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359520.12:c.1981G>A MANE Select	ENSP00000352510.7:p.Glu661Lys
ENST00000359520.11:c.1981G>A	ENSP00000352510.7:p.Glu661Lys
ENST00000558678.1:c.1981G>A	ENSP00000453671.1:p.Glu661Lys
NM_001172631.1:c.1981G>A	NP_001166102.1:p.Glu661Lys
NM_001172631.2:c.1981G>A	NP_001166102.1:p.Glu661Lys
NM_014844.3:c.1981G>A	NP_055659.2:p.Glu661Lys
NM_014844.4:c.1981G>A	NP_055659.2:p.Glu661Lys
XM_005268246.2:c.1648G>A	XP_005268303.1:p.Glu550Lys
XM_011537419.1:c.1981G>A	XP_011535721.1:p.Glu661Lys
NM_014844.5:c.1981G>A MANE Select	NP_055659.2:p.Glu661Lys
NM_001172631.3:c.1981G>A	NP_001166102.1:p.Glu661Lys