Canonical Allele Identifier: CA412192339

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs1362222702
• gnomAD v4: 22-50523882-A-G
• MyVariant Identifiers: chr22:g.50962311A>G (hg19) ; chr22:g.50523882A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50523882A>G , CM000684.2:g.50523882A>G	GRCh38
NC_000022.10:g.50962311A>G , CM000684.1:g.50962311A>G	GRCh37
NC_000022.9:g.49309177A>G	NCBI36
NG_011860.1:g.11204T>C , LRG_727:g.11204T>C
NG_016235.1:g.7558T>C
NG_021419.1:g.20667A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.530T>C (SCO2) MANE Select	ENSP00000379046.4:p.Met177Thr
ENST00000420993.7:c.*507A>G (NCAPH2) MANE Select	ENSP00000410088.2:n.*507A>G
ENST00000543927.6:c.530T>C (SCO2)	ENSP00000444433.1:p.Met177Thr
ENST00000252785.3:c.530T>C	ENSP00000252785.3:p.Met177Thr
ENST00000395693.7:c.530T>C	ENSP00000379046.3:p.Met177Thr
ENST00000535425.5:c.530T>C	ENSP00000444242.1:p.Met177Thr
ENST00000543927.5:c.530T>C	ENSP00000444433.1:p.Met177Thr
NM_001169109.1:c.530T>C (SCO2)	NP_001162580.1:p.Met177Thr
NM_001169110.1:c.530T>C (SCO2)	NP_001162581.1:p.Met177Thr
NM_001169111.1:c.530T>C (SCO2)	NP_001162582.1:p.Met177Thr
NM_001185011.1:c.*507A>G (NCAPH2)	NP_001171940.1:n.*507A>G
NM_005138.2:c.530T>C (SCO2)	NP_005129.2:p.Met177Thr
NM_152299.3:c.*507A>G (NCAPH2)	NP_689512.2:n.*507A>G
XR_001755232.1:n.2535A>G (NCAPH2)
NM_152299.4:c.*507A>G (NCAPH2) MANE Select	NP_689512.2:n.*507A>G
NM_001185011.2:c.*507A>G (NCAPH2)	NP_001171940.1:n.*507A>G
NM_005138.3:c.530T>C (SCO2) MANE Select	NP_005129.2:p.Met177Thr
NM_001169109.2:c.530T>C (SCO2)	NP_001162580.1:p.Met177Thr
NM_001169111.2:c.530T>C (SCO2)	NP_001162582.1:p.Met177Thr