Canonical Allele Identifier: CA7357757

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 408914
• ClinVar RCV Id: RCV000476819 ; RCV001848806
• dbSNP Id: rs186595127
• ExAC: 14:102900760 G / C
• gnomAD v2: 14-102900760-G-C
• gnomAD v3: 14-102434423-G-C
• gnomAD v4: 14-102434423-G-C
• MyVariant Identifiers: chr14:g.102900760G>C (hg19) ; chr14:g.102434423G>C (hg38)

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