Canonical Allele Identifier: CA8681959

Gene: PTRH2

Linked Data

• ClinVar Variation Id: 388253
• ClinVar RCV Id: RCV000431834 ; RCV003959963
• dbSNP Id: rs147437736
• ExAC: 17:57775289 G / A
• gnomAD v2: 17-57775289-G-A
• gnomAD v3: 17-59697928-G-A
• gnomAD v4: 17-59697928-G-A
• MyVariant Identifiers: chr17:g.57775289G>A (hg19) ; chr17:g.59697928G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697928G>A , CM000679.2:g.59697928G>A	GRCh38
NC_000017.10:g.57775289G>A , CM000679.1:g.57775289G>A	GRCh37
NC_000017.9:g.55130071G>A	NCBI36
NG_042064.1:g.14671C>T
NG_047043.1:g.83240G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.51C>T MANE Select	ENSP00000376758.2:p.Leu17=
ENST00000393038.2:c.51C>T	ENSP00000376758.2:p.Leu17=
ENST00000409433.2:c.54C>T	ENSP00000387180.2:p.Leu18=
ENST00000470557.2:c.51C>T	ENSP00000464327.1:p.Leu17=
ENST00000587935.1:n.45+9443C>T
NM_001015509.2:c.54C>T	NP_001015509.1:p.Leu18=
NM_016077.3:c.51C>T	NP_057161.1:p.Leu17=
NM_016077.4:c.51C>T	NP_057161.1:p.Leu17=
XM_011524887.1:c.51C>T	XP_011523189.1:p.Leu17=
XM_011524887.2:c.51C>T	XP_011523189.1:p.Leu17=
NM_016077.5:c.51C>T MANE Select	NP_057161.1:p.Leu17=
NM_001015509.3:c.54C>T	NP_001015509.1:p.Leu18=