Canonical Allele Identifier: CA2268261670

Gene: PTRH2

Linked Data

• dbSNP Id: rs2033461962

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697571del , CM000679.2:g.59697571del	GRCh38
NC_000017.10:g.57774932del , CM000679.1:g.57774932del	GRCh37
NC_000017.9:g.55129714del	NCBI36
NG_042064.1:g.15030del
NG_047043.1:g.82883del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.410del MANE Select	ENSP00000376758.2:p.Gly137AspfsTer2
ENST00000393038.2:c.410del	ENSP00000376758.2:p.Gly137AspfsTer2
ENST00000409433.2:c.413del	ENSP00000387180.2:p.Gly138AspfsTer2
ENST00000470557.2:c.410del	ENSP00000464327.1:p.Gly137AspfsTer2
ENST00000587935.1:n.45+9802del
NM_001015509.2:c.413del	NP_001015509.1:p.Gly138AspfsTer2
NM_016077.3:c.410del	NP_057161.1:p.Gly137AspfsTer2
NM_016077.4:c.410del	NP_057161.1:p.Gly137AspfsTer2
XM_011524887.1:c.410del	XP_011523189.1:p.Gly137AspfsTer2
XM_011524887.2:c.410del	XP_011523189.1:p.Gly137AspfsTer2
NM_016077.5:c.410del MANE Select	NP_057161.1:p.Gly137AspfsTer2
NM_001015509.3:c.413del	NP_001015509.1:p.Gly138AspfsTer2