Canonical Allele Identifier: CA412192817

Linked Data

ClinVar Variation Id: 3025219
ClinVar RCV Id: RCV003886095
dbSNP Id: rs1380402120

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50524005A>G , CM000684.2:g.50524005A>G GRCh38
NC_000022.10:g.50962434A>G , CM000684.1:g.50962434A>G GRCh37
NC_000022.9:g.49309300A>G NCBI36
NG_011860.1:g.11081T>C , LRG_727:g.11081T>C
NG_016235.1:g.7435T>C
NG_021419.1:g.20790A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000395693.8:c.407T>C (SCO2) MANE Select ENSP00000379046.4:p.Ile136Thr
ENST00000420993.7:c.*630A>G (NCAPH2) MANE Select ENSP00000410088.2:n.*630A>G
ENST00000543927.6:c.407T>C (SCO2) ENSP00000444433.1:p.Ile136Thr
ENST00000638598.2:c.407T>C (SCO2) ENSP00000491753.2:p.Ile136Thr
ENST00000252785.3:c.407T>C ENSP00000252785.3:p.Ile136Thr
ENST00000395693.7:c.407T>C ENSP00000379046.3:p.Ile136Thr
ENST00000423348.1:c.407T>C ENSP00000403570.1:p.Ile136Thr
ENST00000439934.5:c.407T>C ENSP00000415642.1:p.Ile136Thr
ENST00000535425.5:c.407T>C ENSP00000444242.1:p.Ile136Thr
ENST00000543927.5:c.407T>C ENSP00000444433.1:p.Ile136Thr
NM_001169109.1:c.407T>C (SCO2) NP_001162580.1:p.Ile136Thr
NM_001169110.1:c.407T>C (SCO2) NP_001162581.1:p.Ile136Thr
NM_001169111.1:c.407T>C (SCO2) NP_001162582.1:p.Ile136Thr
NM_001185011.1:c.*630A>G (NCAPH2) NP_001171940.1:n.*630A>G
NM_005138.2:c.407T>C (SCO2) NP_005129.2:p.Ile136Thr
NM_152299.3:c.*630A>G (NCAPH2) NP_689512.2:n.*630A>G
XR_001755232.1:n.2658A>G (NCAPH2)
NM_152299.4:c.*630A>G (NCAPH2) MANE Select NP_689512.2:n.*630A>G
NM_001185011.2:c.*630A>G (NCAPH2) NP_001171940.1:n.*630A>G
NM_005138.3:c.407T>C (SCO2) MANE Select NP_005129.2:p.Ile136Thr
NM_001169109.2:c.407T>C (SCO2) NP_001162580.1:p.Ile136Thr
NM_001169111.2:c.407T>C (SCO2) NP_001162582.1:p.Ile136Thr