Canonical Allele Identifier: CA11623807
Gene: RPP14 HGNC NCBI
HTD2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.58317208C>T , CM000665.2:g.58317208C>T GRCh38
NC_000003.11:g.58302935C>T , CM000665.1:g.58302935C>T GRCh37
NC_000003.10:g.58277975C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000295959.10:c.318+215C>T (RPP14) MANE Select ENSP00000295959.5:n.318+215C>T
ENST00000461393.7:c.-175+215C>T (HTD2) MANE Select ENSP00000484277.1:n.-175+215C>T
ENST00000295959.9:c.318+215C>T (RPP14) ENSP00000295959.5:n.318+215C>T
ENST00000445193.7:c.318+215C>T (RPP14) ENSP00000412894.2:n.318+215C>T
ENST00000461393.5:c.-175+215C>T (HTD2) ENSP00000484277.1:n.-175+215C>T
ENST00000463550.2:n.594+215C>T (RPP14)
ENST00000466547.1:c.318+215C>T (RPP14) ENSP00000419909.1:n.318+215C>T
ENST00000474660.5:c.-175+215C>T (HTD2) ENSP00000477762.1:n.-175+215C>T
ENST00000475412.5:c.-175+215C>T (HTD2) ENSP00000481678.1:n.-175+215C>T
ENST00000476007.2:c.-175+215C>T (HTD2) ENSP00000478964.1:n.-175+215C>T
ENST00000477305.5:c.-175+215C>T (HTD2) ENSP00000481593.1:n.-175+215C>T
ENST00000481972.5:c.-175+215C>T (HTD2) ENSP00000482940.1:n.-175+215C>T
NM_001098783.2:c.318+215C>T (RPP14) NP_001092253.1:n.318+215C>T
NM_007042.4:c.318+215C>T (RPP14) NP_008973.1:n.318+215C>T
NR_049755.1:n.648+215C>T (RPP14)
NR_049756.1:n.512+215C>T (RPP14)
NR_049757.1:n.414+215C>T (RPP14)
NR_049758.1:n.329+215C>T (RPP14)
XM_011533313.1:c.318+215C>T (RPP14) XP_011531615.1:n.318+215C>T
NM_001348712.1:c.-175+215C>T (HTD2) NP_001335641.1:n.-175+215C>T
NM_001348713.1:c.-175+215C>T (HTD2) NP_001335642.1:n.-175+215C>T
NM_001348714.1:c.-175+215C>T (HTD2) NP_001335643.1:n.-175+215C>T
NM_001348715.1:c.-175+215C>T (HTD2) NP_001335644.1:n.-175+215C>T
NM_007042.5:c.318+215C>T (RPP14) NP_008973.1:n.318+215C>T
NM_001098783.3:c.318+215C>T (RPP14) NP_001092253.1:n.318+215C>T
NM_001348712.2:c.-175+215C>T (HTD2) MANE Select NP_001335641.1:n.-175+215C>T
NM_007042.6:c.318+215C>T (RPP14) MANE Select NP_008973.1:n.318+215C>T
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