Canonical Allele Identifier: CA7357475

Gene: TECPR2

Linked Data

• ClinVar Variation Id: 509148
• ClinVar RCV Id: RCV000610616 ; RCV000862126 ; RCV001848988
• dbSNP Id: rs140791062
• ExAC: 14:102881098 T / C
• gnomAD v2: 14-102881098-T-C
• gnomAD v3: 14-102414761-T-C
• gnomAD v4: 14-102414761-T-C
• MyVariant Identifiers: chr14:g.102881098T>C (hg19) ; chr14:g.102414761T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.102414761T>C , CM000676.2:g.102414761T>C	GRCh38
NC_000014.8:g.102881098T>C , CM000676.1:g.102881098T>C	GRCh37
NC_000014.7:g.101950851T>C	NCBI36
NG_042851.1:g.56850T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359520.12:c.606T>C MANE Select	ENSP00000352510.7:p.Ser202=
ENST00000359520.11:c.606T>C	ENSP00000352510.7:p.Ser202=
ENST00000558678.1:c.606T>C	ENSP00000453671.1:p.Ser202=
ENST00000561228.1:n.734T>C
NM_001172631.1:c.606T>C	NP_001166102.1:p.Ser202=
NM_001172631.2:c.606T>C	NP_001166102.1:p.Ser202=
NM_014844.3:c.606T>C	NP_055659.2:p.Ser202=
NM_014844.4:c.606T>C	NP_055659.2:p.Ser202=
XM_005268246.2:c.606T>C	XP_005268303.1:p.Ser202=
XM_011537419.1:c.606T>C	XP_011535721.1:p.Ser202=
NM_014844.5:c.606T>C MANE Select	NP_055659.2:p.Ser202=
NM_001172631.3:c.606T>C	NP_001166102.1:p.Ser202=