Canonical Allele Identifier: CA2410905783

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523590T= , CM000684.2:g.50523590T= GRCh38
NC_000022.10:g.50962019T= , CM000684.1:g.50962019T= GRCh37
NC_000022.9:g.49308885T= NCBI36
NG_016235.1:g.7850A=
NG_021419.1:g.20375T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.*21A= (SCO2) MANE Select ENSP00000379046.4:n.*21A=
ENST00000420993.7:c.*215T= (NCAPH2) MANE Select ENSP00000410088.2:n.*215T=
ENST00000543927.6:c.*21A= (SCO2) ENSP00000444433.1:n.*21A=
ENST00000395693.7:c.*21A= ENSP00000379046.3:n.*21A=
ENST00000535425.5:c.*21A= ENSP00000444242.1:n.*21A=
ENST00000543927.5:c.*21A= ENSP00000444433.1:n.*21A=
NM_001169109.1:c.*21A= (SCO2) NP_001162580.1:n.*21A=
NM_001169110.1:c.*21A= (SCO2) NP_001162581.1:n.*21A=
NM_001169111.1:c.*21A= (SCO2) NP_001162582.1:n.*21A=
NM_001185011.1:c.*215T= (NCAPH2) NP_001171940.1:n.*215T=
NM_005138.2:c.*21A= (SCO2) NP_005129.2:n.*21A=
NM_152299.3:c.*215T= (NCAPH2) NP_689512.2:n.*215T=
XR_001755232.1:n.2243T= (NCAPH2)
NM_152299.4:c.*215T= (NCAPH2) MANE Select NP_689512.2:n.*215T=
NM_001185011.2:c.*215T= (NCAPH2) NP_001171940.1:n.*215T=
NM_005138.3:c.*21A= (SCO2) MANE Select NP_005129.2:n.*21A=
NM_001169109.2:c.*21A= (SCO2) NP_001162580.1:n.*21A=
NM_001169111.2:c.*21A= (SCO2) NP_001162582.1:n.*21A=