Canonical Allele Identifier: CA400428791

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774910G>A (hg19) ; chr17:g.59697549G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697549G>A , CM000679.2:g.59697549G>A	GRCh38
NC_000017.10:g.57774910G>A , CM000679.1:g.57774910G>A	GRCh37
NC_000017.9:g.55129692G>A	NCBI36
NG_042064.1:g.15050C>T
NG_047043.1:g.82861G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.430C>T MANE Select	ENSP00000376758.2:p.Gln144Ter
ENST00000393038.2:c.430C>T	ENSP00000376758.2:p.Gln144Ter
ENST00000409433.2:c.433C>T	ENSP00000387180.2:p.Gln145Ter
ENST00000470557.2:c.430C>T	ENSP00000464327.1:p.Gln144Ter
ENST00000587935.1:n.45+9822C>T
NM_001015509.2:c.433C>T	NP_001015509.1:p.Gln145Ter
NM_016077.3:c.430C>T	NP_057161.1:p.Gln144Ter
NM_016077.4:c.430C>T	NP_057161.1:p.Gln144Ter
XM_011524887.1:c.430C>T	XP_011523189.1:p.Gln144Ter
XM_011524887.2:c.430C>T	XP_011523189.1:p.Gln144Ter
NM_016077.5:c.430C>T MANE Select	NP_057161.1:p.Gln144Ter
NM_001015509.3:c.433C>T	NP_001015509.1:p.Gln145Ter