Canonical Allele Identifier: CA186106

Gene: PTRH2

Linked Data

• ClinVar Variation Id: 183332
• ClinVar RCV Id: RCV000162156 ; RCV000162247 ; RCV001799627
• dbSNP Id: rs730882234
• MyVariant Identifiers: chr17:g.57775086T>G (hg19) ; chr17:g.59697725T>G (hg38)
• PubMed: PMID:25558065

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697725T>G , CM000679.2:g.59697725T>G	GRCh38
NC_000017.10:g.57775086T>G , CM000679.1:g.57775086T>G	GRCh37
NC_000017.9:g.55129868T>G	NCBI36
NG_042064.1:g.14874A>C
NG_047043.1:g.83037T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.254A>C MANE Select	ENSP00000376758.2:p.Gln85Pro
ENST00000393038.2:c.254A>C	ENSP00000376758.2:p.Gln85Pro
ENST00000409433.2:c.257A>C	ENSP00000387180.2:p.Gln86Pro
ENST00000470557.2:c.254A>C	ENSP00000464327.1:p.Gln85Pro
ENST00000587935.1:n.45+9646A>C
NM_001015509.2:c.257A>C	NP_001015509.1:p.Gln86Pro
NM_016077.3:c.254A>C	NP_057161.1:p.Gln85Pro
NM_016077.4:c.254A>C	NP_057161.1:p.Gln85Pro
XM_011524887.1:c.254A>C	XP_011523189.1:p.Gln85Pro
XM_011524887.2:c.254A>C	XP_011523189.1:p.Gln85Pro
NM_016077.5:c.254A>C MANE Select	NP_057161.1:p.Gln85Pro
NM_001015509.3:c.257A>C	NP_001015509.1:p.Gln86Pro