Canonical Allele Identifier: CA325555955

Linked Data

ClinVar Variation Id: 1525924
ClinVar RCV Id: RCV002050475
dbSNP Id: rs911274422

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524179A>T , CM000684.2:g.50524179A>T GRCh38
NC_000022.10:g.50962608A>T , CM000684.1:g.50962608A>T GRCh37
NC_000022.9:g.49309474A>T NCBI36
NG_011860.1:g.10907T>A , LRG_727:g.10907T>A
NG_016235.1:g.7261T>A
NG_021419.1:g.20964A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.233T>A (SCO2) MANE Select ENSP00000379046.4:p.Leu78Gln
ENST00000420993.7:c.*804A>T (NCAPH2) MANE Select ENSP00000410088.2:n.*804A>T
ENST00000543927.6:c.233T>A (SCO2) ENSP00000444433.1:p.Leu78Gln
ENST00000638598.2:c.233T>A (SCO2) ENSP00000491753.2:p.Leu78Gln
ENST00000252785.3:c.233T>A ENSP00000252785.3:p.Leu78Gln
ENST00000395693.7:c.233T>A ENSP00000379046.3:p.Leu78Gln
ENST00000423348.1:c.233T>A ENSP00000403570.1:p.Leu78Gln
ENST00000439934.5:c.233T>A ENSP00000415642.1:p.Leu78Gln
ENST00000535425.5:c.233T>A ENSP00000444242.1:p.Leu78Gln
ENST00000543927.5:c.233T>A ENSP00000444433.1:p.Leu78Gln
NM_001169109.1:c.233T>A (SCO2) NP_001162580.1:p.Leu78Gln
NM_001169110.1:c.233T>A (SCO2) NP_001162581.1:p.Leu78Gln
NM_001169111.1:c.233T>A (SCO2) NP_001162582.1:p.Leu78Gln
NM_001185011.1:c.*804A>T (NCAPH2) NP_001171940.1:n.*804A>T
NM_005138.2:c.233T>A (SCO2) NP_005129.2:p.Leu78Gln
NM_152299.3:c.*804A>T (NCAPH2) NP_689512.2:n.*804A>T
XR_001755232.1:n.2832A>T (NCAPH2)
NM_152299.4:c.*804A>T (NCAPH2) MANE Select NP_689512.2:n.*804A>T
NM_001185011.2:c.*804A>T (NCAPH2) NP_001171940.1:n.*804A>T
NM_005138.3:c.233T>A (SCO2) MANE Select NP_005129.2:p.Leu78Gln
NM_001169109.2:c.233T>A (SCO2) NP_001162580.1:p.Leu78Gln
NM_001169111.2:c.233T>A (SCO2) NP_001162582.1:p.Leu78Gln