Canonical Allele Identifier: CA412190406

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50523666T>C , CM000684.2:g.50523666T>C GRCh38
NC_000022.10:g.50962095T>C , CM000684.1:g.50962095T>C GRCh37
NC_000022.9:g.49308961T>C NCBI36
NG_016235.1:g.7774A>G
NG_021419.1:g.20451T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.746A>G (SCO2) MANE Select ENSP00000379046.4:p.Gln249Arg
ENST00000420993.7:c.*291T>C (NCAPH2) MANE Select ENSP00000410088.2:n.*291T>C
ENST00000543927.6:c.746A>G (SCO2) ENSP00000444433.1:p.Gln249Arg
ENST00000252785.3:c.746A>G ENSP00000252785.3:p.Gln249Arg
ENST00000395693.7:c.746A>G ENSP00000379046.3:p.Gln249Arg
ENST00000535425.5:c.746A>G ENSP00000444242.1:p.Gln249Arg
ENST00000543927.5:c.746A>G ENSP00000444433.1:p.Gln249Arg
NM_001169109.1:c.746A>G (SCO2) NP_001162580.1:p.Gln249Arg
NM_001169110.1:c.746A>G (SCO2) NP_001162581.1:p.Gln249Arg
NM_001169111.1:c.746A>G (SCO2) NP_001162582.1:p.Gln249Arg
NM_001185011.1:c.*291T>C (NCAPH2) NP_001171940.1:n.*291T>C
NM_005138.2:c.746A>G (SCO2) NP_005129.2:p.Gln249Arg
NM_152299.3:c.*291T>C (NCAPH2) NP_689512.2:n.*291T>C
XR_001755232.1:n.2319T>C (NCAPH2)
NM_152299.4:c.*291T>C (NCAPH2) MANE Select NP_689512.2:n.*291T>C
NM_001185011.2:c.*291T>C (NCAPH2) NP_001171940.1:n.*291T>C
NM_005138.3:c.746A>G (SCO2) MANE Select NP_005129.2:p.Gln249Arg
NM_001169109.2:c.746A>G (SCO2) NP_001162580.1:p.Gln249Arg
NM_001169111.2:c.746A>G (SCO2) NP_001162582.1:p.Gln249Arg