Canonical Allele Identifier: CA10321252

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2727757
• ClinVar RCV Id: RCV003557277
• dbSNP Id: rs757520767
• ExAC: 22:50962589 C / T
• gnomAD v2: 22-50962589-C-T
• gnomAD v3: 22-50524160-C-T
• gnomAD v4: 22-50524160-C-T
• MyVariant Identifiers: chr22:g.50962589C>T (hg19) ; chr22:g.50962589_50962591delinsTCT (hg19) ; chr22:g.50524160C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524160C>T , CM000684.2:g.50524160C>T	GRCh38
NC_000022.10:g.50962589C>T , CM000684.1:g.50962589C>T	GRCh37
NC_000022.9:g.49309455C>T	NCBI36
NG_011860.1:g.10926G>A , LRG_727:g.10926G>A
NG_016235.1:g.7280G>A
NG_021419.1:g.20945C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.252G>A (SCO2) MANE Select	ENSP00000379046.4:p.Arg84=
ENST00000420993.7:c.*785C>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*785C>T
ENST00000543927.6:c.252G>A (SCO2)	ENSP00000444433.1:p.Arg84=
ENST00000638598.2:c.252G>A (SCO2)	ENSP00000491753.2:p.Arg84=
ENST00000252785.3:c.252G>A	ENSP00000252785.3:p.Arg84=
ENST00000395693.7:c.252G>A	ENSP00000379046.3:p.Arg84=
ENST00000423348.1:c.252G>A	ENSP00000403570.1:p.Arg84=
ENST00000439934.5:c.252G>A	ENSP00000415642.1:p.Arg84=
ENST00000535425.5:c.252G>A	ENSP00000444242.1:p.Arg84=
ENST00000543927.5:c.252G>A	ENSP00000444433.1:p.Arg84=
NM_001169109.1:c.252G>A (SCO2)	NP_001162580.1:p.Arg84=
NM_001169110.1:c.252G>A (SCO2)	NP_001162581.1:p.Arg84=
NM_001169111.1:c.252G>A (SCO2)	NP_001162582.1:p.Arg84=
NM_001185011.1:c.*785C>T (NCAPH2)	NP_001171940.1:n.*785C>T
NM_005138.2:c.252G>A (SCO2)	NP_005129.2:p.Arg84=
NM_152299.3:c.*785C>T (NCAPH2)	NP_689512.2:n.*785C>T
XR_001755232.1:n.2813C>T (NCAPH2)
NM_152299.4:c.*785C>T (NCAPH2) MANE Select	NP_689512.2:n.*785C>T
NM_001185011.2:c.*785C>T (NCAPH2)	NP_001171940.1:n.*785C>T
NM_005138.3:c.252G>A (SCO2) MANE Select	NP_005129.2:p.Arg84=
NM_001169109.2:c.252G>A (SCO2)	NP_001162580.1:p.Arg84=
NM_001169111.2:c.252G>A (SCO2)	NP_001162582.1:p.Arg84=