Canonical Allele Identifier: CA2697547793
Community Standard Title: NM_001011.4(RPS7):c.-19+2T>A
Gene: RPS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3575352T>A , CM000664.2:g.3575352T>A GRCh38
NC_000002.11:g.3622942T>A , CM000664.1:g.3622942T>A GRCh37
NC_000002.10:g.3600817T>A NCBI36
NG_011744.1:g.5090T>A

Transcript Alleles

HGVS Amino-acid Change
NM_001011.4:c.-19+2T>A MANE Select NP_001002.1:n.-19+2T>A
ENST00000645674.2:c.-19+2T>A MANE Select ENSP00000496757.1:n.-19+2T>A
NM_001011.3:c.-19+2T>A NP_001002.1:n.-19+2T>A
ENST00000304921.9:c.-19+2T>A ENSP00000339095.4:n.-19+2T>A
ENST00000403564.5:c.-115T>A ENSP00000385018.1:n.-115T>A
ENST00000407445.7:c.-19+2T>A ENSP00000385729.3:n.-19+2T>A
ENST00000407445.8:c.-258T>A ENSP00000385729.3:n.-258T>A
ENST00000462576.5:n.28T>A
ENST00000491937.5:n.8T>A
ENST00000491937.6:n.28+2T>A
ENST00000646909.1:c.-54+2T>A ENSP00000496654.1:n.-54+2T>A
ENST00000647131.1:c.-19+2T>A ENSP00000494995.1:n.-19+2T>A