Canonical Allele Identifier: CA412193925

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50524265-C-A
• MyVariant Identifiers: chr22:g.50962694C>A (hg19) ; chr22:g.50524265C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524265C>A , CM000684.2:g.50524265C>A	GRCh38
NC_000022.10:g.50962694C>A , CM000684.1:g.50962694C>A	GRCh37
NC_000022.9:g.49309560C>A	NCBI36
NG_011860.1:g.10821G>T , LRG_727:g.10821G>T
NG_016235.1:g.7175G>T
NG_021419.1:g.21050C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.147G>T (SCO2) MANE Select	ENSP00000379046.4:p.Gln49His
ENST00000420993.7:c.*890C>A (NCAPH2) MANE Select	ENSP00000410088.2:n.*890C>A
ENST00000543927.6:c.147G>T (SCO2)	ENSP00000444433.1:p.Gln49His
ENST00000638598.2:c.147G>T (SCO2)	ENSP00000491753.2:p.Gln49His
ENST00000252785.3:c.147G>T	ENSP00000252785.3:p.Gln49His
ENST00000395693.7:c.147G>T	ENSP00000379046.3:p.Gln49His
ENST00000423348.1:c.147G>T	ENSP00000403570.1:p.Gln49His
ENST00000439934.5:c.147G>T	ENSP00000415642.1:p.Gln49His
ENST00000535425.5:c.147G>T	ENSP00000444242.1:p.Gln49His
ENST00000543927.5:c.147G>T	ENSP00000444433.1:p.Gln49His
NM_001169109.1:c.147G>T (SCO2)	NP_001162580.1:p.Gln49His
NM_001169110.1:c.147G>T (SCO2)	NP_001162581.1:p.Gln49His
NM_001169111.1:c.147G>T (SCO2)	NP_001162582.1:p.Gln49His
NM_001185011.1:c.*890C>A (NCAPH2)	NP_001171940.1:n.*890C>A
NM_005138.2:c.147G>T (SCO2)	NP_005129.2:p.Gln49His
NM_152299.3:c.*890C>A (NCAPH2)	NP_689512.2:n.*890C>A
XR_001755232.1:n.2918C>A (NCAPH2)
NM_152299.4:c.*890C>A (NCAPH2) MANE Select	NP_689512.2:n.*890C>A
NM_001185011.2:c.*890C>A (NCAPH2)	NP_001171940.1:n.*890C>A
NM_005138.3:c.147G>T (SCO2) MANE Select	NP_005129.2:p.Gln49His
NM_001169109.2:c.147G>T (SCO2)	NP_001162580.1:p.Gln49His
NM_001169111.2:c.147G>T (SCO2)	NP_001162582.1:p.Gln49His