Canonical Allele Identifier: CA7357786

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 511254
• ClinVar RCV Id: RCV000614740 ; RCV000862274 ; RCV001848993
• dbSNP Id: rs116185336
• ExAC: 14:102900943 C / T
• gnomAD v2: 14-102900943-C-T
• gnomAD v3: 14-102434606-C-T
• gnomAD v4: 14-102434606-C-T
• MyVariant Identifiers: chr14:g.102900943C>T (hg19) ; chr14:g.102434606C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102434606C>T , CM000676.2:g.102434606C>T	GRCh38
NC_000014.8:g.102900943C>T , CM000676.1:g.102900943C>T	GRCh37
NC_000014.7:g.101970696C>T	NCBI36
NG_042851.1:g.76695C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359520.12:c.1789C>T MANE Select	ENSP00000352510.7:p.Leu597Phe
ENST00000359520.11:c.1789C>T	ENSP00000352510.7:p.Leu597Phe
ENST00000558678.1:c.1789C>T	ENSP00000453671.1:p.Leu597Phe
NM_001172631.1:c.1789C>T	NP_001166102.1:p.Leu597Phe
NM_001172631.2:c.1789C>T	NP_001166102.1:p.Leu597Phe
NM_014844.3:c.1789C>T	NP_055659.2:p.Leu597Phe
NM_014844.4:c.1789C>T	NP_055659.2:p.Leu597Phe
XM_005268246.2:c.1456C>T	XP_005268303.1:p.Leu486Phe
XM_011537419.1:c.1789C>T	XP_011535721.1:p.Leu597Phe
NM_014844.5:c.1789C>T MANE Select	NP_055659.2:p.Leu597Phe
NM_001172631.3:c.1789C>T	NP_001166102.1:p.Leu597Phe