Canonical Allele Identifier: CA2410906040

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524013G= , CM000684.2:g.50524013G= GRCh38
NC_000022.10:g.50962442G= , CM000684.1:g.50962442G= GRCh37
NC_000022.9:g.49309308G= NCBI36
NG_011860.1:g.11073C= , LRG_727:g.11073C=
NG_016235.1:g.7427C=
NG_021419.1:g.20798G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.399C= (SCO2) MANE Select ENSP00000379046.4:p.Cys133=
ENST00000420993.7:c.*638G= (NCAPH2) MANE Select ENSP00000410088.2:n.*638G=
ENST00000543927.6:c.399C= (SCO2) ENSP00000444433.1:p.Cys133=
ENST00000638598.2:c.399C= (SCO2) ENSP00000491753.2:p.Cys133=
ENST00000252785.3:c.399C= ENSP00000252785.3:p.Cys133=
ENST00000395693.7:c.399C= ENSP00000379046.3:p.Cys133=
ENST00000423348.1:c.399C= ENSP00000403570.1:p.Cys133=
ENST00000439934.5:c.399C= ENSP00000415642.1:p.Cys133=
ENST00000535425.5:c.399C= ENSP00000444242.1:p.Cys133=
ENST00000543927.5:c.399C= ENSP00000444433.1:p.Cys133=
NM_001169109.1:c.399C= (SCO2) NP_001162580.1:p.Cys133=
NM_001169110.1:c.399C= (SCO2) NP_001162581.1:p.Cys133=
NM_001169111.1:c.399C= (SCO2) NP_001162582.1:p.Cys133=
NM_001185011.1:c.*638G= (NCAPH2) NP_001171940.1:n.*638G=
NM_005138.2:c.399C= (SCO2) NP_005129.2:p.Cys133=
NM_152299.3:c.*638G= (NCAPH2) NP_689512.2:n.*638G=
XR_001755232.1:n.2666G= (NCAPH2)
NM_152299.4:c.*638G= (NCAPH2) MANE Select NP_689512.2:n.*638G=
NM_001185011.2:c.*638G= (NCAPH2) NP_001171940.1:n.*638G=
NM_005138.3:c.399C= (SCO2) MANE Select NP_005129.2:p.Cys133=
NM_001169109.2:c.399C= (SCO2) NP_001162580.1:p.Cys133=
NM_001169111.2:c.399C= (SCO2) NP_001162582.1:p.Cys133=