Canonical Allele Identifier: CA293438

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 139082
• ClinVar RCV Id: RCV000128012 ; RCV000271220 ; RCV000374348 ; RCV000338357 ; RCV000676291 ; RCV001148413 ; RCV001807081
• dbSNP Id: rs140523
• ExAC: 22:50962782 C / G
• gnomAD v2: 22-50962782-C-G
• gnomAD v3: 22-50524353-C-G
• gnomAD v4: 22-50524353-C-G
• MyVariant Identifiers: chr22:g.50962782C>G (hg19) ; chr22:g.50524353C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524353C>G , CM000684.2:g.50524353C>G	GRCh38
NC_000022.10:g.50962782C>G , CM000684.1:g.50962782C>G	GRCh37
NC_000022.9:g.49309648C>G	NCBI36
NG_011860.1:g.10733G>C , LRG_727:g.10733G>C
NG_016235.1:g.7087G>C
NG_021419.1:g.21138C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.59G>C (SCO2) MANE Select	ENSP00000379046.4:p.Arg20Pro
ENST00000420993.7:c.*978C>G (NCAPH2) MANE Select	ENSP00000410088.2:n.*978C>G
ENST00000543927.6:c.59G>C (SCO2)	ENSP00000444433.1:p.Arg20Pro
ENST00000638598.2:c.59G>C (SCO2)	ENSP00000491753.2:p.Arg20Pro
ENST00000252785.3:c.59G>C	ENSP00000252785.3:p.Arg20Pro
ENST00000395693.7:c.59G>C	ENSP00000379046.3:p.Arg20Pro
ENST00000423348.1:c.59G>C	ENSP00000403570.1:p.Arg20Pro
ENST00000439934.5:c.59G>C	ENSP00000415642.1:p.Arg20Pro
ENST00000535425.5:c.59G>C	ENSP00000444242.1:p.Arg20Pro
ENST00000543927.5:c.59G>C	ENSP00000444433.1:p.Arg20Pro
NM_001169109.1:c.59G>C (SCO2)	NP_001162580.1:p.Arg20Pro
NM_001169110.1:c.59G>C (SCO2)	NP_001162581.1:p.Arg20Pro
NM_001169111.1:c.59G>C (SCO2)	NP_001162582.1:p.Arg20Pro
NM_001185011.1:c.*978C>G (NCAPH2)	NP_001171940.1:n.*978C>G
NM_005138.2:c.59G>C (SCO2)	NP_005129.2:p.Arg20Pro
NM_152299.3:c.*978C>G (NCAPH2)	NP_689512.2:n.*978C>G
XR_001755232.1:n.3006C>G (NCAPH2)
NM_152299.4:c.*978C>G (NCAPH2) MANE Select	NP_689512.2:n.*978C>G
NM_001185011.2:c.*978C>G (NCAPH2)	NP_001171940.1:n.*978C>G
NM_005138.3:c.59G>C (SCO2) MANE Select	NP_005129.2:p.Arg20Pro
NM_001169109.2:c.59G>C (SCO2)	NP_001162580.1:p.Arg20Pro
NM_001169111.2:c.59G>C (SCO2)	NP_001162582.1:p.Arg20Pro