Canonical Allele Identifier: CA400429229

Gene: PTRH2

Linked Data

• MyVariant Identifiers: chr17:g.57774993A>C (hg19) ; chr17:g.59697632A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697632A>C , CM000679.2:g.59697632A>C	GRCh38
NC_000017.10:g.57774993A>C , CM000679.1:g.57774993A>C	GRCh37
NC_000017.9:g.55129775A>C	NCBI36
NG_042064.1:g.14967T>G
NG_047043.1:g.82944A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393038.3:c.347T>G MANE Select	ENSP00000376758.2:p.Val116Gly
ENST00000393038.2:c.347T>G	ENSP00000376758.2:p.Val116Gly
ENST00000409433.2:c.350T>G	ENSP00000387180.2:p.Val117Gly
ENST00000470557.2:c.347T>G	ENSP00000464327.1:p.Val116Gly
ENST00000587935.1:n.45+9739T>G
NM_001015509.2:c.350T>G	NP_001015509.1:p.Val117Gly
NM_016077.3:c.347T>G	NP_057161.1:p.Val116Gly
NM_016077.4:c.347T>G	NP_057161.1:p.Val116Gly
XM_011524887.1:c.347T>G	XP_011523189.1:p.Val116Gly
XM_011524887.2:c.347T>G	XP_011523189.1:p.Val116Gly
NM_016077.5:c.347T>G MANE Select	NP_057161.1:p.Val116Gly
NM_001015509.3:c.350T>G	NP_001015509.1:p.Val117Gly