Canonical Allele Identifier: CA2470623

Gene: RPP14 HTD2

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.58316959A>G , CM000665.2:g.58316959A>G	GRCh38
NC_000003.11:g.58302686A>G , CM000665.1:g.58302686A>G	GRCh37
NC_000003.10:g.58277726A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001348712.2:c.-209A>G (HTD2) MANE Select	NP_001335641.1:n.-209A>G
NM_007042.6:c.284A>G (RPP14) MANE Select	NP_008973.1:p.Tyr95Cys
ENST00000295959.10:c.284A>G (RPP14) MANE Select	ENSP00000295959.5:p.Tyr95Cys
ENST00000461393.7:c.-209A>G (HTD2) MANE Select	ENSP00000484277.1:n.-209A>G
NM_001098783.2:c.284A>G (RPP14)	NP_001092253.1:p.Tyr95Cys
NM_001098783.3:c.284A>G (RPP14)	NP_001092253.1:p.Tyr95Cys
NM_001348712.1:c.-209A>G (HTD2)	NP_001335641.1:n.-209A>G
NM_001348713.1:c.-209A>G (HTD2)	NP_001335642.1:n.-209A>G
NM_001348714.1:c.-209A>G (HTD2)	NP_001335643.1:n.-209A>G
NM_001348715.1:c.-209A>G (HTD2)	NP_001335644.1:n.-209A>G
NM_007042.4:c.284A>G (RPP14)	NP_008973.1:p.Tyr95Cys
NM_007042.5:c.284A>G (RPP14)	NP_008973.1:p.Tyr95Cys
NR_049755.1:n.614A>G (RPP14)
NR_049756.1:n.478A>G (RPP14)
NR_049757.1:n.380A>G (RPP14)
NR_049758.1:n.295A>G (RPP14)
ENST00000295959.9:c.284A>G (RPP14)	ENSP00000295959.5:p.Tyr95Cys
ENST00000445193.7:c.284A>G (RPP14)	ENSP00000412894.2:p.Tyr95Cys
ENST00000461393.5:c.-209A>G (HTD2)	ENSP00000484277.1:n.-209A>G
ENST00000463550.2:n.560A>G (RPP14)
ENST00000466547.1:c.284A>G (RPP14)	ENSP00000419909.1:p.Tyr95Cys
ENST00000474660.5:c.-209A>G (HTD2)	ENSP00000477762.1:n.-209A>G
ENST00000475412.5:c.-209A>G (HTD2)	ENSP00000481678.1:n.-209A>G
ENST00000476007.2:c.-209A>G (HTD2)	ENSP00000478964.1:n.-209A>G
ENST00000477305.5:c.-209A>G (HTD2)	ENSP00000481593.1:n.-209A>G
ENST00000481972.5:c.-209A>G (HTD2)	ENSP00000482940.1:n.-209A>G
XM_011533313.1:c.284A>G (RPP14)	XP_011531615.1:p.Tyr95Cys