Canonical Allele Identifier: CA10321286

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs750018119
• ExAC: 22:50962689 TGGCCCTGCCCACCTGTCTCTGCAG / T
• gnomAD v2: 22-50962689-TGGCCCTGCCCACCTGTCTCTGCAG-T
• gnomAD v3: 22-50524260-TGGCCCTGCCCACCTGTCTCTGCAG-T
• gnomAD v4: 22-50524260-TGGCCCTGCCCACCTGTCTCTGCAG-T
• MyVariant Identifiers: chr22:g.50962690_50962713del (hg19) ; chr22:g.50524261_50524284del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524270_50524293del , CM000684.2:g.50524270_50524293del	GRCh38
NC_000022.10:g.50962699_50962722del , CM000684.1:g.50962699_50962722del	GRCh37
NC_000022.9:g.49309565_49309588del	NCBI36
NG_011860.1:g.10802_10825del , LRG_727:g.10802_10825del
NG_016235.1:g.7156_7179del
NG_021419.1:g.21055_21078del

Transcript Alleles

HGVS	Amino-acid change
ENST00000395693.8:c.128_151del (SCO2) MANE Select	ENSP00000379046.4:p.Pro43_Gly50del
ENST00000420993.7:c.*895_*918del (NCAPH2) MANE Select	ENSP00000410088.2:n.*895_*918del
ENST00000543927.6:c.128_151del (SCO2)	ENSP00000444433.1:p.Pro43_Gly50del
ENST00000638598.2:c.128_151del (SCO2)	ENSP00000491753.2:p.Pro43_Gly50del
ENST00000252785.3:c.128_151del	ENSP00000252785.3:p.Pro43_Gly50del
ENST00000395693.7:c.128_151del	ENSP00000379046.3:p.Pro43_Gly50del
ENST00000423348.1:c.128_151del	ENSP00000403570.1:p.Pro43_Gly50del
ENST00000439934.5:c.128_151del	ENSP00000415642.1:p.Pro43_Gly50del
ENST00000535425.5:c.128_151del	ENSP00000444242.1:p.Pro43_Gly50del
ENST00000543927.5:c.128_151del	ENSP00000444433.1:p.Pro43_Gly50del
NM_001169109.1:c.128_151del (SCO2)	NP_001162580.1:p.Pro43_Gly50del
NM_001169110.1:c.128_151del (SCO2)	NP_001162581.1:p.Pro43_Gly50del
NM_001169111.1:c.128_151del (SCO2)	NP_001162582.1:p.Pro43_Gly50del
NM_001185011.1:c.*895_*918del (NCAPH2)	NP_001171940.1:n.*895_*918del
NM_005138.2:c.128_151del (SCO2)	NP_005129.2:p.Pro43_Gly50del
NM_152299.3:c.*895_*918del (NCAPH2)	NP_689512.2:n.*895_*918del
XR_001755232.1:n.2923_2946del (NCAPH2)
NM_152299.4:c.*895_*918del (NCAPH2) MANE Select	NP_689512.2:n.*895_*918del
NM_001185011.2:c.*895_*918del (NCAPH2)	NP_001171940.1:n.*895_*918del
NM_005138.3:c.128_151del (SCO2) MANE Select	NP_005129.2:p.Pro43_Gly50del
NM_001169109.2:c.128_151del (SCO2)	NP_001162580.1:p.Pro43_Gly50del
NM_001169111.2:c.128_151del (SCO2)	NP_001162582.1:p.Pro43_Gly50del