Canonical Allele Identifier: CA2657557733

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50524121-T-TGCCTGGCGCAGGGCTTCTGTTCGCTTTTGCTGCTGCAGCCTCTCCTTCTCAGCCCTCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524125_50524184dup , CM000684.2:g.50524125_50524184dup	GRCh38
NC_000022.10:g.50962554_50962613dup , CM000684.1:g.50962554_50962613dup	GRCh37
NC_000022.9:g.49309420_49309479dup	NCBI36
NG_011860.1:g.10905_10964dup , LRG_727:g.10905_10964dup
NG_016235.1:g.7259_7318dup
NG_021419.1:g.20910_20969dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.231_290dup (SCO2) MANE Select	ENSP00000379046.4:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000420993.7:c.*750_*809dup (NCAPH2) MANE Select	ENSP00000410088.2:n.*750_*809dup
ENST00000543927.6:c.231_290dup (SCO2)	ENSP00000444433.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000638598.2:c.231_290dup (SCO2)	ENSP00000491753.2:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000252785.3:c.231_290dup	ENSP00000252785.3:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000395693.7:c.231_290dup	ENSP00000379046.3:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000423348.1:c.231_290dup	ENSP00000403570.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000439934.5:c.231_290dup	ENSP00000415642.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000535425.5:c.231_290dup	ENSP00000444242.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
ENST00000543927.5:c.231_290dup	ENSP00000444433.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGln...
NM_001169109.1:c.231_290dup (SCO2)	NP_001162580.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGln...
NM_001169110.1:c.231_290dup (SCO2)	NP_001162581.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGln...
NM_001169111.1:c.231_290dup (SCO2)	NP_001162582.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGln...
NM_001185011.1:c.*750_*809dup (NCAPH2)	NP_001171940.1:n.*750_*809dup
NM_005138.2:c.231_290dup (SCO2)	NP_005129.2:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGlnGln...
NM_152299.3:c.*750_*809dup (NCAPH2)	NP_689512.2:n.*750_*809dup
XR_001755232.1:n.2778_2837dup (NCAPH2)
NM_152299.4:c.*750_*809dup (NCAPH2) MANE Select	NP_689512.2:n.*750_*809dup
NM_001185011.2:c.*750_*809dup (NCAPH2)	NP_001171940.1:n.*750_*809dup
NM_005138.3:c.231_290dup (SCO2) MANE Select	NP_005129.2:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGlnGln...
NM_001169109.2:c.231_290dup (SCO2)	NP_001162580.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGln...
NM_001169111.2:c.231_290dup (SCO2)	NP_001162582.1:p.Ala97_Ala98insLeuArgAlaGluLysGluArgLeuGlnGln...