Canonical Allele Identifier: CA400428938

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774931C>G (hg19) ; chr17:g.59697570C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697570C>G , CM000679.2:g.59697570C>G	GRCh38
NC_000017.10:g.57774931C>G , CM000679.1:g.57774931C>G	GRCh37
NC_000017.9:g.55129713C>G	NCBI36
NG_042064.1:g.15029G>C
NG_047043.1:g.82882C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.409G>C MANE Select	ENSP00000376758.2:p.Gly137Arg
ENST00000393038.2:c.409G>C	ENSP00000376758.2:p.Gly137Arg
ENST00000409433.2:c.412G>C	ENSP00000387180.2:p.Gly138Arg
ENST00000470557.2:c.409G>C	ENSP00000464327.1:p.Gly137Arg
ENST00000587935.1:n.45+9801G>C
NM_001015509.2:c.412G>C	NP_001015509.1:p.Gly138Arg
NM_016077.3:c.409G>C	NP_057161.1:p.Gly137Arg
NM_016077.4:c.409G>C	NP_057161.1:p.Gly137Arg
XM_011524887.1:c.409G>C	XP_011523189.1:p.Gly137Arg
XM_011524887.2:c.409G>C	XP_011523189.1:p.Gly137Arg
NM_016077.5:c.409G>C MANE Select	NP_057161.1:p.Gly137Arg
NM_001015509.3:c.412G>C	NP_001015509.1:p.Gly138Arg