Canonical Allele Identifier: CA7357320

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 408913
• ClinVar RCV Id: RCV000467785 ; RCV000785130 ; RCV002526420
• dbSNP Id: rs150645913
• ExAC: 14:102843111 A / G
• gnomAD v2: 14-102843111-A-G
• gnomAD v3: 14-102376774-A-G
• gnomAD v4: 14-102376774-A-G
• MyVariant Identifiers: chr14:g.102843111A>G (hg19) ; chr14:g.102376774A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102376774A>G , CM000676.2:g.102376774A>G	GRCh38
NC_000014.8:g.102843111A>G , CM000676.1:g.102843111A>G	GRCh37
NC_000014.7:g.101912864A>G	NCBI36
NG_042851.1:g.18863A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359520.12:c.53A>G MANE Select	ENSP00000352510.7:p.Tyr18Cys
ENST00000359520.11:c.53A>G	ENSP00000352510.7:p.Tyr18Cys
ENST00000558678.1:c.53A>G	ENSP00000453671.1:p.Tyr18Cys
ENST00000561228.1:n.181A>G
NM_001172631.1:c.53A>G	NP_001166102.1:p.Tyr18Cys
NM_001172631.2:c.53A>G	NP_001166102.1:p.Tyr18Cys
NM_014844.3:c.53A>G	NP_055659.2:p.Tyr18Cys
NM_014844.4:c.53A>G	NP_055659.2:p.Tyr18Cys
XM_005268246.2:c.53A>G	XP_005268303.1:p.Tyr18Cys
XM_011537419.1:c.53A>G	XP_011535721.1:p.Tyr18Cys
NM_014844.5:c.53A>G MANE Select	NP_055659.2:p.Tyr18Cys
NM_001172631.3:c.53A>G	NP_001166102.1:p.Tyr18Cys