Canonical Allele Identifier: CA292127009

Gene: PTRH2

Linked Data

• dbSNP Id: rs35719333
• gnomAD v2: 17-57774936-A-AT
• gnomAD v3: 17-59697575-A-AT
• gnomAD v4: 17-59697575-A-AT
• MyVariant Identifiers: chr17:g.57774936_57774937insT (hg19) ; chr17:g.59697575_59697576insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.59697580dup , CM000679.2:g.59697580dup	GRCh38
NC_000017.10:g.57774941dup , CM000679.1:g.57774941dup	GRCh37
NC_000017.9:g.55129723dup	NCBI36
NG_042064.1:g.15023dup
NG_047043.1:g.82892dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393038.3:c.403dup MANE Select	ENSP00000376758.2:p.Met135AsnfsTer?
ENST00000393038.2:c.403dup	ENSP00000376758.2:p.Met135AsnfsTer?
ENST00000409433.2:c.406dup	ENSP00000387180.2:p.Met136AsnfsTer?
ENST00000470557.2:c.403dup	ENSP00000464327.1:p.Met135AsnfsTer?
ENST00000587935.1:n.45+9795dup
NM_001015509.2:c.406dup	NP_001015509.1:p.Met136AsnfsTer?
NM_016077.3:c.403dup	NP_057161.1:p.Met135AsnfsTer?
NM_016077.4:c.403dup	NP_057161.1:p.Met135AsnfsTer?
XM_011524887.1:c.403dup	XP_011523189.1:p.Met135AsnfsTer?
XM_011524887.2:c.403dup	XP_011523189.1:p.Met135AsnfsTer?
NM_016077.5:c.403dup MANE Select	NP_057161.1:p.Met135AsnfsTer?
NM_001015509.3:c.406dup	NP_001015509.1:p.Met136AsnfsTer?