Canonical Allele Identifier: CA2739268037

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2885252
• ClinVar RCV Id: RCV003717163

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524352_50524353delinsTG , CM000684.2:g.50524352_50524353delinsTG	GRCh38
NC_000022.10:g.50962781_50962782delinsTG , CM000684.1:g.50962781_50962782delinsTG	GRCh37
NC_000022.9:g.49309647_49309648delinsTG	NCBI36
NG_011860.1:g.10733_10734delinsCA , LRG_727:g.10733_10734delinsCA
NG_016235.1:g.7087_7088delinsCA
NG_021419.1:g.21137_21138delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.59_60delinsCA (SCO2) MANE Select	ENSP00000379046.4:p.Arg20Pro
ENST00000420993.7:c.*977_*978delinsTG (NCAPH2) MANE Select	ENSP00000410088.2:n.*977_*978delinsTG
ENST00000543927.6:c.59_60delinsCA (SCO2)	ENSP00000444433.1:p.Arg20Pro
ENST00000638598.2:c.59_60delinsCA (SCO2)	ENSP00000491753.2:p.Arg20Pro
ENST00000252785.3:c.59_60delinsCA	ENSP00000252785.3:p.Arg20Pro
ENST00000395693.7:c.59_60delinsCA	ENSP00000379046.3:p.Arg20Pro
ENST00000423348.1:c.59_60delinsCA	ENSP00000403570.1:p.Arg20Pro
ENST00000439934.5:c.59_60delinsCA	ENSP00000415642.1:p.Arg20Pro
ENST00000535425.5:c.59_60delinsCA	ENSP00000444242.1:p.Arg20Pro
ENST00000543927.5:c.59_60delinsCA	ENSP00000444433.1:p.Arg20Pro
NM_001169109.1:c.59_60delinsCA (SCO2)	NP_001162580.1:p.Arg20Pro
NM_001169110.1:c.59_60delinsCA (SCO2)	NP_001162581.1:p.Arg20Pro
NM_001169111.1:c.59_60delinsCA (SCO2)	NP_001162582.1:p.Arg20Pro
NM_001185011.1:c.*977_*978delinsTG (NCAPH2)	NP_001171940.1:n.*977_*978delinsTG
NM_005138.2:c.59_60delinsCA (SCO2)	NP_005129.2:p.Arg20Pro
NM_152299.3:c.*977_*978delinsTG (NCAPH2)	NP_689512.2:n.*977_*978delinsTG
XR_001755232.1:n.3005_3006delinsTG (NCAPH2)
NM_152299.4:c.*977_*978delinsTG (NCAPH2) MANE Select	NP_689512.2:n.*977_*978delinsTG
NM_001185011.2:c.*977_*978delinsTG (NCAPH2)	NP_001171940.1:n.*977_*978delinsTG
NM_005138.3:c.59_60delinsCA (SCO2) MANE Select	NP_005129.2:p.Arg20Pro
NM_001169109.2:c.59_60delinsCA (SCO2)	NP_001162580.1:p.Arg20Pro
NM_001169111.2:c.59_60delinsCA (SCO2)	NP_001162582.1:p.Arg20Pro