Canonical Allele Identifier: CA2410905939

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523857G= , CM000684.2:g.50523857G= GRCh38
NC_000022.10:g.50962286G= , CM000684.1:g.50962286G= GRCh37
NC_000022.9:g.49309152G= NCBI36
NG_011860.1:g.11229C= , LRG_727:g.11229C=
NG_016235.1:g.7583C=
NG_021419.1:g.20642G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.555C= (SCO2) MANE Select ENSP00000379046.4:p.His185=
ENST00000420993.7:c.*482G= (NCAPH2) MANE Select ENSP00000410088.2:n.*482G=
ENST00000543927.6:c.555C= (SCO2) ENSP00000444433.1:p.His185=
ENST00000252785.3:c.555C= ENSP00000252785.3:p.His185=
ENST00000395693.7:c.555C= ENSP00000379046.3:p.His185=
ENST00000535425.5:c.555C= ENSP00000444242.1:p.His185=
ENST00000543927.5:c.555C= ENSP00000444433.1:p.His185=
NM_001169109.1:c.555C= (SCO2) NP_001162580.1:p.His185=
NM_001169110.1:c.555C= (SCO2) NP_001162581.1:p.His185=
NM_001169111.1:c.555C= (SCO2) NP_001162582.1:p.His185=
NM_001185011.1:c.*482G= (NCAPH2) NP_001171940.1:n.*482G=
NM_005138.2:c.555C= (SCO2) NP_005129.2:p.His185=
NM_152299.3:c.*482G= (NCAPH2) NP_689512.2:n.*482G=
XR_001755232.1:n.2510G= (NCAPH2)
NM_152299.4:c.*482G= (NCAPH2) MANE Select NP_689512.2:n.*482G=
NM_001185011.2:c.*482G= (NCAPH2) NP_001171940.1:n.*482G=
NM_005138.3:c.555C= (SCO2) MANE Select NP_005129.2:p.His185=
NM_001169109.2:c.555C= (SCO2) NP_001162580.1:p.His185=
NM_001169111.2:c.555C= (SCO2) NP_001162582.1:p.His185=