Canonical Allele Identifier: CA2268261666
Gene: PTRH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.59697561C= , CM000679.2:g.59697561C= GRCh38
NC_000017.10:g.57774922C= , CM000679.1:g.57774922C= GRCh37
NC_000017.9:g.55129704C= NCBI36
NG_042064.1:g.15038G=
NG_047043.1:g.82873C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000393038.3:c.418G= MANE Select ENSP00000376758.2:p.Val140=
ENST00000393038.2:c.418G= ENSP00000376758.2:p.Val140=
ENST00000409433.2:c.421G= ENSP00000387180.2:p.Val141=
ENST00000470557.2:c.418G= ENSP00000464327.1:p.Val140=
ENST00000587935.1:n.45+9810G=
NM_001015509.2:c.421G= NP_001015509.1:p.Val141=
NM_016077.3:c.418G= NP_057161.1:p.Val140=
NM_016077.4:c.418G= NP_057161.1:p.Val140=
XM_011524887.1:c.418G= XP_011523189.1:p.Val140=
XM_011524887.2:c.418G= XP_011523189.1:p.Val140=
NM_016077.5:c.418G= MANE Select NP_057161.1:p.Val140=
NM_001015509.3:c.421G= NP_001015509.1:p.Val141=