Canonical Allele Identifier: CA10321253

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 1208507
• ClinVar RCV Id: RCV001576864
• dbSNP Id: rs757005556
• ExAC: 22:50962594 CCTT / C
• gnomAD v2: 22-50962594-CCTT-C
• gnomAD v3: 22-50524165-CCTT-C
• gnomAD v4: 22-50524165-CCTT-C
• MyVariant Identifiers: chr22:g.50962595_50962597del (hg19) ; chr22:g.50524167_50524169del (hg38) ; chr22:g.50524166_50524168del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524168_50524170del , CM000684.2:g.50524168_50524170del	GRCh38
NC_000022.10:g.50962597_50962599del , CM000684.1:g.50962597_50962599del	GRCh37
NC_000022.9:g.49309463_49309465del	NCBI36
NG_011860.1:g.10918_10920del , LRG_727:g.10918_10920del
NG_016235.1:g.7272_7274del
NG_021419.1:g.20953_20955del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.244_246del (SCO2) MANE Select	ENSP00000379046.4:p.Lys82del
ENST00000420993.7:c.*793_*795del (NCAPH2) MANE Select	ENSP00000410088.2:n.*793_*795del
ENST00000543927.6:c.244_246del (SCO2)	ENSP00000444433.1:p.Lys82del
ENST00000638598.2:c.244_246del (SCO2)	ENSP00000491753.2:p.Lys82del
ENST00000252785.3:c.244_246del	ENSP00000252785.3:p.Lys82del
ENST00000395693.7:c.244_246del	ENSP00000379046.3:p.Lys82del
ENST00000423348.1:c.244_246del	ENSP00000403570.1:p.Lys82del
ENST00000439934.5:c.244_246del	ENSP00000415642.1:p.Lys82del
ENST00000535425.5:c.244_246del	ENSP00000444242.1:p.Lys82del
ENST00000543927.5:c.244_246del	ENSP00000444433.1:p.Lys82del
NM_001169109.1:c.244_246del (SCO2)	NP_001162580.1:p.Lys82del
NM_001169110.1:c.244_246del (SCO2)	NP_001162581.1:p.Lys82del
NM_001169111.1:c.244_246del (SCO2)	NP_001162582.1:p.Lys82del
NM_001185011.1:c.*793_*795del (NCAPH2)	NP_001171940.1:n.*793_*795del
NM_005138.2:c.244_246del (SCO2)	NP_005129.2:p.Lys82del
NM_152299.3:c.*793_*795del (NCAPH2)	NP_689512.2:n.*793_*795del
XR_001755232.1:n.2821_2823del (NCAPH2)
NM_152299.4:c.*793_*795del (NCAPH2) MANE Select	NP_689512.2:n.*793_*795del
NM_001185011.2:c.*793_*795del (NCAPH2)	NP_001171940.1:n.*793_*795del
NM_005138.3:c.244_246del (SCO2) MANE Select	NP_005129.2:p.Lys82del
NM_001169109.2:c.244_246del (SCO2)	NP_001162580.1:p.Lys82del
NM_001169111.2:c.244_246del (SCO2)	NP_001162582.1:p.Lys82del