Canonical Allele Identifier: CA1026668040
Gene: SCO2 HGNC NCBI
NCAPH2 HGNC NCBI

Linked Data

dbSNP Id: rs2069220686
gnomAD v3: 22-50524177-TCA-T
gnomAD v4: 22-50524177-TCA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524178_50524179del , CM000684.2:g.50524178_50524179del GRCh38
NC_000022.10:g.50962607_50962608del , CM000684.1:g.50962607_50962608del GRCh37
NC_000022.9:g.49309473_49309474del NCBI36
NG_011860.1:g.10907_10908del , LRG_727:g.10907_10908del
NG_016235.1:g.7261_7262del
NG_021419.1:g.20963_20964del

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.233_234del (SCO2) MANE Select ENSP00000379046.4:p.Leu78GlnfsTer3
ENST00000420993.7:c.*803_*804del (NCAPH2) MANE Select ENSP00000410088.2:n.*803_*804del
ENST00000543927.6:c.233_234del (SCO2) ENSP00000444433.1:p.Leu78GlnfsTer3
ENST00000638598.2:c.233_234del (SCO2) ENSP00000491753.2:p.Leu78GlnfsTer3
ENST00000252785.3:c.233_234del ENSP00000252785.3:p.Leu78GlnfsTer3
ENST00000395693.7:c.233_234del ENSP00000379046.3:p.Leu78GlnfsTer3
ENST00000423348.1:c.233_234del ENSP00000403570.1:p.Leu78GlnfsTer3
ENST00000439934.5:c.233_234del ENSP00000415642.1:p.Leu78GlnfsTer3
ENST00000535425.5:c.233_234del ENSP00000444242.1:p.Leu78GlnfsTer3
ENST00000543927.5:c.233_234del ENSP00000444433.1:p.Leu78GlnfsTer3
NM_001169109.1:c.233_234del (SCO2) NP_001162580.1:p.Leu78GlnfsTer3
NM_001169110.1:c.233_234del (SCO2) NP_001162581.1:p.Leu78GlnfsTer3
NM_001169111.1:c.233_234del (SCO2) NP_001162582.1:p.Leu78GlnfsTer3
NM_001185011.1:c.*803_*804del (NCAPH2) NP_001171940.1:n.*803_*804del
NM_005138.2:c.233_234del (SCO2) NP_005129.2:p.Leu78GlnfsTer3
NM_152299.3:c.*803_*804del (NCAPH2) NP_689512.2:n.*803_*804del
XR_001755232.1:n.2831_2832del (NCAPH2)
NM_152299.4:c.*803_*804del (NCAPH2) MANE Select NP_689512.2:n.*803_*804del
NM_001185011.2:c.*803_*804del (NCAPH2) NP_001171940.1:n.*803_*804del
NM_005138.3:c.233_234del (SCO2) MANE Select NP_005129.2:p.Leu78GlnfsTer3
NM_001169109.2:c.233_234del (SCO2) NP_001162580.1:p.Leu78GlnfsTer3
NM_001169111.2:c.233_234del (SCO2) NP_001162582.1:p.Leu78GlnfsTer3
Search 100 bp 5'
Search 100 bp 3'