Canonical Allele Identifier: CA10321211

Linked Data

ClinVar Variation Id: 2095570
ClinVar RCV Id: RCV003012395
dbSNP Id: rs186248656

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523995G>C , CM000684.2:g.50523995G>C GRCh38
NC_000022.10:g.50962424G>C , CM000684.1:g.50962424G>C GRCh37
NC_000022.9:g.49309290G>C NCBI36
NG_011860.1:g.11091C>G , LRG_727:g.11091C>G
NG_016235.1:g.7445C>G
NG_021419.1:g.20780G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.417C>G (SCO2) MANE Select ENSP00000379046.4:p.Asp139Glu
ENST00000420993.7:c.*620G>C (NCAPH2) MANE Select ENSP00000410088.2:n.*620G>C
ENST00000543927.6:c.417C>G (SCO2) ENSP00000444433.1:p.Asp139Glu
ENST00000638598.2:c.417C>G (SCO2) ENSP00000491753.2:p.Asp139Glu
ENST00000252785.3:c.417C>G ENSP00000252785.3:p.Asp139Glu
ENST00000395693.7:c.417C>G ENSP00000379046.3:p.Asp139Glu
ENST00000535425.5:c.417C>G ENSP00000444242.1:p.Asp139Glu
ENST00000543927.5:c.417C>G ENSP00000444433.1:p.Asp139Glu
NM_001169109.1:c.417C>G (SCO2) NP_001162580.1:p.Asp139Glu
NM_001169110.1:c.417C>G (SCO2) NP_001162581.1:p.Asp139Glu
NM_001169111.1:c.417C>G (SCO2) NP_001162582.1:p.Asp139Glu
NM_001185011.1:c.*620G>C (NCAPH2) NP_001171940.1:n.*620G>C
NM_005138.2:c.417C>G (SCO2) NP_005129.2:p.Asp139Glu
NM_152299.3:c.*620G>C (NCAPH2) NP_689512.2:n.*620G>C
XR_001755232.1:n.2648G>C (NCAPH2)
NM_152299.4:c.*620G>C (NCAPH2) MANE Select NP_689512.2:n.*620G>C
NM_001185011.2:c.*620G>C (NCAPH2) NP_001171940.1:n.*620G>C
NM_005138.3:c.417C>G (SCO2) MANE Select NP_005129.2:p.Asp139Glu
NM_001169109.2:c.417C>G (SCO2) NP_001162580.1:p.Asp139Glu
NM_001169111.2:c.417C>G (SCO2) NP_001162582.1:p.Asp139Glu