Canonical Allele Identifier: CA400428970

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774938T>G (hg19) ; chr17:g.59697577T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697577T>G , CM000679.2:g.59697577T>G	GRCh38
NC_000017.10:g.57774938T>G , CM000679.1:g.57774938T>G	GRCh37
NC_000017.9:g.55129720T>G	NCBI36
NG_042064.1:g.15022A>C
NG_047043.1:g.82889T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.402A>C MANE Select	ENSP00000376758.2:p.Lys134Asn
ENST00000393038.2:c.402A>C	ENSP00000376758.2:p.Lys134Asn
ENST00000409433.2:c.405A>C	ENSP00000387180.2:p.Lys135Asn
ENST00000470557.2:c.402A>C	ENSP00000464327.1:p.Lys134Asn
ENST00000587935.1:n.45+9794A>C
NM_001015509.2:c.405A>C	NP_001015509.1:p.Lys135Asn
NM_016077.3:c.402A>C	NP_057161.1:p.Lys134Asn
NM_016077.4:c.402A>C	NP_057161.1:p.Lys134Asn
XM_011524887.1:c.402A>C	XP_011523189.1:p.Lys134Asn
XM_011524887.2:c.402A>C	XP_011523189.1:p.Lys134Asn
NM_016077.5:c.402A>C MANE Select	NP_057161.1:p.Lys134Asn
NM_001015509.3:c.405A>C	NP_001015509.1:p.Lys135Asn