Canonical Allele Identifier: CA515269506

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs1287607639
• gnomAD v2: 22-50962941-T-C
• gnomAD v4: 22-50524512-T-C
• MyVariant Identifiers: chr22:g.50962941T>C (hg19) ; chr22:g.50524512T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524512T>C , CM000684.2:g.50524512T>C	GRCh38
NC_000022.10:g.50962941T>C , CM000684.1:g.50962941T>C	GRCh37
NC_000022.9:g.49309807T>C	NCBI36
NG_011860.1:g.10574A>G , LRG_727:g.10574A>G
NG_016235.1:g.6928A>G
NG_021419.1:g.21297T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.-13-88A>G (SCO2) MANE Select	ENSP00000379046.4:n.-13-88A>G
ENST00000420993.7:c.*1137T>C (NCAPH2) MANE Select	ENSP00000410088.2:n.*1137T>C
ENST00000543927.6:c.-13-88A>G (SCO2)	ENSP00000444433.1:n.-13-88A>G
ENST00000638598.2:c.-13-88A>G (SCO2)	ENSP00000491753.2:n.-13-88A>G
ENST00000252785.3:c.-13-88A>G	ENSP00000252785.3:n.-13-88A>G
ENST00000395693.7:c.-13-88A>G	ENSP00000379046.3:n.-13-88A>G
ENST00000423348.1:c.-13-88A>G	ENSP00000403570.1:n.-13-88A>G
ENST00000439934.5:c.-13-88A>G	ENSP00000415642.1:n.-13-88A>G
ENST00000535425.5:c.-13-88A>G	ENSP00000444242.1:n.-13-88A>G
ENST00000543927.5:c.-13-88A>G	ENSP00000444433.1:n.-13-88A>G
NM_001169109.1:c.-13-88A>G (SCO2)	NP_001162580.1:n.-13-88A>G
NM_001169110.1:c.-13-88A>G (SCO2)	NP_001162581.1:n.-13-88A>G
NM_001169111.1:c.-13-88A>G (SCO2)	NP_001162582.1:n.-13-88A>G
NM_001185011.1:c.*1137T>C (NCAPH2)	NP_001171940.1:n.*1137T>C
NM_005138.2:c.-13-88A>G (SCO2)	NP_005129.2:n.-13-88A>G
NM_152299.3:c.*1137T>C (NCAPH2)	NP_689512.2:n.*1137T>C
XR_001755232.1:n.3165T>C (NCAPH2)
NM_152299.4:c.*1137T>C (NCAPH2) MANE Select	NP_689512.2:n.*1137T>C
NM_001185011.2:c.*1137T>C (NCAPH2)	NP_001171940.1:n.*1137T>C
NM_005138.3:c.-13-88A>G (SCO2) MANE Select	NP_005129.2:n.-13-88A>G
NM_001169109.2:c.-13-88A>G (SCO2)	NP_001162580.1:n.-13-88A>G
NM_001169111.2:c.-13-88A>G (SCO2)	NP_001162582.1:n.-13-88A>G