Canonical Allele Identifier: CA400429196

Gene: PTRH2

Linked Data

• ClinVar Variation Id: 3149723
• ClinVar RCV Id: RCV004438079
• dbSNP Id: rs1346876474
• gnomAD v2: 17-57774984-T-C
• gnomAD v4: 17-59697623-T-C
• MyVariant Identifiers: chr17:g.57774984T>C (hg19) ; chr17:g.59697623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697623T>C , CM000679.2:g.59697623T>C	GRCh38
NC_000017.10:g.57774984T>C , CM000679.1:g.57774984T>C	GRCh37
NC_000017.9:g.55129766T>C	NCBI36
NG_042064.1:g.14976A>G
NG_047043.1:g.82935T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.356A>G MANE Select	ENSP00000376758.2:p.Lys119Arg
ENST00000393038.2:c.356A>G	ENSP00000376758.2:p.Lys119Arg
ENST00000409433.2:c.359A>G	ENSP00000387180.2:p.Lys120Arg
ENST00000470557.2:c.356A>G	ENSP00000464327.1:p.Lys119Arg
ENST00000587935.1:n.45+9748A>G
NM_001015509.2:c.359A>G	NP_001015509.1:p.Lys120Arg
NM_016077.3:c.356A>G	NP_057161.1:p.Lys119Arg
NM_016077.4:c.356A>G	NP_057161.1:p.Lys119Arg
XM_011524887.1:c.356A>G	XP_011523189.1:p.Lys119Arg
XM_011524887.2:c.356A>G	XP_011523189.1:p.Lys119Arg
NM_016077.5:c.356A>G MANE Select	NP_057161.1:p.Lys119Arg
NM_001015509.3:c.359A>G	NP_001015509.1:p.Lys120Arg