Canonical Allele Identifier: CA10321175

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 902939
• ClinVar RCV Id: RCV001149866 ; RCV001149867 ; RCV001882460 ; RCV003405357
• dbSNP Id: rs147624681
• ExAC: 22:50962300 C / T
• gnomAD v2: 22-50962300-C-T
• gnomAD v3: 22-50523871-C-T
• gnomAD v4: 22-50523871-C-T
• MyVariant Identifiers: chr22:g.50962300C>T (hg19) ; chr22:g.50523871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523871C>T , CM000684.2:g.50523871C>T	GRCh38
NC_000022.10:g.50962300C>T , CM000684.1:g.50962300C>T	GRCh37
NC_000022.9:g.49309166C>T	NCBI36
NG_011860.1:g.11215G>A , LRG_727:g.11215G>A
NG_016235.1:g.7569G>A
NG_021419.1:g.20656C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.541G>A (SCO2) MANE Select	ENSP00000379046.4:p.Val181Ile
ENST00000420993.7:c.*496C>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*496C>T
ENST00000543927.6:c.541G>A (SCO2)	ENSP00000444433.1:p.Val181Ile
ENST00000252785.3:c.541G>A	ENSP00000252785.3:p.Val181Ile
ENST00000395693.7:c.541G>A	ENSP00000379046.3:p.Val181Ile
ENST00000535425.5:c.541G>A	ENSP00000444242.1:p.Val181Ile
ENST00000543927.5:c.541G>A	ENSP00000444433.1:p.Val181Ile
NM_001169109.1:c.541G>A (SCO2)	NP_001162580.1:p.Val181Ile
NM_001169110.1:c.541G>A (SCO2)	NP_001162581.1:p.Val181Ile
NM_001169111.1:c.541G>A (SCO2)	NP_001162582.1:p.Val181Ile
NM_001185011.1:c.*496C>T (NCAPH2)	NP_001171940.1:n.*496C>T
NM_005138.2:c.541G>A (SCO2)	NP_005129.2:p.Val181Ile
NM_152299.3:c.*496C>T (NCAPH2)	NP_689512.2:n.*496C>T
XR_001755232.1:n.2524C>T (NCAPH2)
NM_152299.4:c.*496C>T (NCAPH2) MANE Select	NP_689512.2:n.*496C>T
NM_001185011.2:c.*496C>T (NCAPH2)	NP_001171940.1:n.*496C>T
NM_005138.3:c.541G>A (SCO2) MANE Select	NP_005129.2:p.Val181Ile
NM_001169109.2:c.541G>A (SCO2)	NP_001162580.1:p.Val181Ile
NM_001169111.2:c.541G>A (SCO2)	NP_001162582.1:p.Val181Ile