Canonical Allele Identifier: CA325555391

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs915461101
• gnomAD v4: 22-50523886-C-T
• MyVariant Identifiers: chr22:g.50962315C>T (hg19) ; chr22:g.50523886C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523886C>T , CM000684.2:g.50523886C>T	GRCh38
NC_000022.10:g.50962315C>T , CM000684.1:g.50962315C>T	GRCh37
NC_000022.9:g.49309181C>T	NCBI36
NG_011860.1:g.11200G>A , LRG_727:g.11200G>A
NG_016235.1:g.7554G>A
NG_021419.1:g.20671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.526G>A (SCO2) MANE Select	ENSP00000379046.4:p.Ala176Thr
ENST00000420993.7:c.*511C>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*511C>T
ENST00000543927.6:c.526G>A (SCO2)	ENSP00000444433.1:p.Ala176Thr
ENST00000252785.3:c.526G>A	ENSP00000252785.3:p.Ala176Thr
ENST00000395693.7:c.526G>A	ENSP00000379046.3:p.Ala176Thr
ENST00000535425.5:c.526G>A	ENSP00000444242.1:p.Ala176Thr
ENST00000543927.5:c.526G>A	ENSP00000444433.1:p.Ala176Thr
NM_001169109.1:c.526G>A (SCO2)	NP_001162580.1:p.Ala176Thr
NM_001169110.1:c.526G>A (SCO2)	NP_001162581.1:p.Ala176Thr
NM_001169111.1:c.526G>A (SCO2)	NP_001162582.1:p.Ala176Thr
NM_001185011.1:c.*511C>T (NCAPH2)	NP_001171940.1:n.*511C>T
NM_005138.2:c.526G>A (SCO2)	NP_005129.2:p.Ala176Thr
NM_152299.3:c.*511C>T (NCAPH2)	NP_689512.2:n.*511C>T
XR_001755232.1:n.2539C>T (NCAPH2)
NM_152299.4:c.*511C>T (NCAPH2) MANE Select	NP_689512.2:n.*511C>T
NM_001185011.2:c.*511C>T (NCAPH2)	NP_001171940.1:n.*511C>T
NM_005138.3:c.526G>A (SCO2) MANE Select	NP_005129.2:p.Ala176Thr
NM_001169109.2:c.526G>A (SCO2)	NP_001162580.1:p.Ala176Thr
NM_001169111.2:c.526G>A (SCO2)	NP_001162582.1:p.Ala176Thr