Canonical Allele Identifier: CA515268875

Gene: SCO2 NCAPH2

Linked Data

• gnomAD v4: 22-50524370-G-A
• MyVariant Identifiers: chr22:g.50962799G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524370G>A , CM000684.2:g.50524370G>A	GRCh38
NC_000022.10:g.50962799G>A , CM000684.1:g.50962799G>A	GRCh37
NC_000022.9:g.49309665G>A	NCBI36
NG_011860.1:g.10716C>T , LRG_727:g.10716C>T
NG_016235.1:g.7070C>T
NG_021419.1:g.21155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.42C>T (SCO2) MANE Select	ENSP00000379046.4:p.Leu14=
ENST00000420993.7:c.*995G>A (NCAPH2) MANE Select	ENSP00000410088.2:n.*995G>A
ENST00000543927.6:c.42C>T (SCO2)	ENSP00000444433.1:p.Leu14=
ENST00000638598.2:c.42C>T (SCO2)	ENSP00000491753.2:p.Leu14=
ENST00000252785.3:c.42C>T	ENSP00000252785.3:p.Leu14=
ENST00000395693.7:c.42C>T	ENSP00000379046.3:p.Leu14=
ENST00000423348.1:c.42C>T	ENSP00000403570.1:p.Leu14=
ENST00000439934.5:c.42C>T	ENSP00000415642.1:p.Leu14=
ENST00000535425.5:c.42C>T	ENSP00000444242.1:p.Leu14=
ENST00000543927.5:c.42C>T	ENSP00000444433.1:p.Leu14=
NM_001169109.1:c.42C>T (SCO2)	NP_001162580.1:p.Leu14=
NM_001169110.1:c.42C>T (SCO2)	NP_001162581.1:p.Leu14=
NM_001169111.1:c.42C>T (SCO2)	NP_001162582.1:p.Leu14=
NM_001185011.1:c.*995G>A (NCAPH2)	NP_001171940.1:n.*995G>A
NM_005138.2:c.42C>T (SCO2)	NP_005129.2:p.Leu14=
NM_152299.3:c.*995G>A (NCAPH2)	NP_689512.2:n.*995G>A
XR_001755232.1:n.3023G>A (NCAPH2)
NM_152299.4:c.*995G>A (NCAPH2) MANE Select	NP_689512.2:n.*995G>A
NM_001185011.2:c.*995G>A (NCAPH2)	NP_001171940.1:n.*995G>A
NM_005138.3:c.42C>T (SCO2) MANE Select	NP_005129.2:p.Leu14=
NM_001169109.2:c.42C>T (SCO2)	NP_001162580.1:p.Leu14=
NM_001169111.2:c.42C>T (SCO2)	NP_001162582.1:p.Leu14=