Canonical Allele Identifier: CA2410905891

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523772T= , CM000684.2:g.50523772T= GRCh38
NC_000022.10:g.50962201T= , CM000684.1:g.50962201T= GRCh37
NC_000022.9:g.49309067T= NCBI36
NG_011860.1:g.11314A= , LRG_727:g.11314A=
NG_016235.1:g.7668A=
NG_021419.1:g.20557T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.640A= (SCO2) MANE Select ENSP00000379046.4:p.Lys214=
ENST00000420993.7:c.*397T= (NCAPH2) MANE Select ENSP00000410088.2:n.*397T=
ENST00000543927.6:c.640A= (SCO2) ENSP00000444433.1:p.Lys214=
ENST00000252785.3:c.640A= ENSP00000252785.3:p.Lys214=
ENST00000395693.7:c.640A= ENSP00000379046.3:p.Lys214=
ENST00000535425.5:c.640A= ENSP00000444242.1:p.Lys214=
ENST00000543927.5:c.640A= ENSP00000444433.1:p.Lys214=
NM_001169109.1:c.640A= (SCO2) NP_001162580.1:p.Lys214=
NM_001169110.1:c.640A= (SCO2) NP_001162581.1:p.Lys214=
NM_001169111.1:c.640A= (SCO2) NP_001162582.1:p.Lys214=
NM_001185011.1:c.*397T= (NCAPH2) NP_001171940.1:n.*397T=
NM_005138.2:c.640A= (SCO2) NP_005129.2:p.Lys214=
NM_152299.3:c.*397T= (NCAPH2) NP_689512.2:n.*397T=
XR_001755232.1:n.2425T= (NCAPH2)
NM_152299.4:c.*397T= (NCAPH2) MANE Select NP_689512.2:n.*397T=
NM_001185011.2:c.*397T= (NCAPH2) NP_001171940.1:n.*397T=
NM_005138.3:c.640A= (SCO2) MANE Select NP_005129.2:p.Lys214=
NM_001169109.2:c.640A= (SCO2) NP_001162580.1:p.Lys214=
NM_001169111.2:c.640A= (SCO2) NP_001162582.1:p.Lys214=