Canonical Allele Identifier: CA324065

Identifiers and link-outs to other resources

dbSNP Id: rs769250383

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523705A>G , CM000684.2:g.50523705A>G GRCh38
NC_000022.10:g.50962134A>G , CM000684.1:g.50962134A>G GRCh37
NC_000022.9:g.49309000A>G NCBI36
NG_016235.1:g.7735T>C
NG_021419.1:g.20490A>G

Transcript Alleles

HGVS Amino-acid change
NM_001169109.1:c.707T>C (SCO2) VV NP_001162580.1:p.Leu236Pro
NM_001169110.1:c.707T>C (SCO2) VV NP_001162581.1:p.Leu236Pro
NM_001169111.1:c.707T>C (SCO2) VV NP_001162582.1:p.Leu236Pro
NM_001185011.1:c.*330A>G (NCAPH2) VV NP_001171940.1:p.=
NM_005138.2:c.707T>C (SCO2) VV NP_005129.2:p.Leu236Pro
NM_152299.3:c.*330A>G (NCAPH2) VV NP_689512.2:p.=
XR_001755232.1:n.2358A>G (NCAPH2)
NM_152299.4:c.*330A>G (NCAPH2) VV
ENST00000252785.3:c.707T>C ENSP00000252785.3:p.Leu236Pro
ENST00000395693.7:c.707T>C ENSP00000379046.3:p.Leu236Pro
ENST00000535425.5:c.707T>C ENSP00000444242.1:p.Leu236Pro
ENST00000543927.5:c.707T>C ENSP00000444433.1:p.Leu236Pro