Canonical Allele Identifier: CA412194229

Gene: SCO2 NCAPH2

Linked Data

• ClinVar Variation Id: 2798083
• ClinVar RCV Id: RCV003675561
• dbSNP Id: rs2069230138
• MyVariant Identifiers: chr22:g.50962733C>T (hg19) ; chr22:g.50524304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524304C>T , CM000684.2:g.50524304C>T	GRCh38
NC_000022.10:g.50962733C>T , CM000684.1:g.50962733C>T	GRCh37
NC_000022.9:g.49309599C>T	NCBI36
NG_011860.1:g.10782G>A , LRG_727:g.10782G>A
NG_016235.1:g.7136G>A
NG_021419.1:g.21089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.108G>A (SCO2) MANE Select	ENSP00000379046.4:p.Trp36Ter
ENST00000420993.7:c.*929C>T (NCAPH2) MANE Select	ENSP00000410088.2:n.*929C>T
ENST00000543927.6:c.108G>A (SCO2)	ENSP00000444433.1:p.Trp36Ter
ENST00000638598.2:c.108G>A (SCO2)	ENSP00000491753.2:p.Trp36Ter
ENST00000252785.3:c.108G>A	ENSP00000252785.3:p.Trp36Ter
ENST00000395693.7:c.108G>A	ENSP00000379046.3:p.Trp36Ter
ENST00000423348.1:c.108G>A	ENSP00000403570.1:p.Trp36Ter
ENST00000439934.5:c.108G>A	ENSP00000415642.1:p.Trp36Ter
ENST00000535425.5:c.108G>A	ENSP00000444242.1:p.Trp36Ter
ENST00000543927.5:c.108G>A	ENSP00000444433.1:p.Trp36Ter
NM_001169109.1:c.108G>A (SCO2)	NP_001162580.1:p.Trp36Ter
NM_001169110.1:c.108G>A (SCO2)	NP_001162581.1:p.Trp36Ter
NM_001169111.1:c.108G>A (SCO2)	NP_001162582.1:p.Trp36Ter
NM_001185011.1:c.*929C>T (NCAPH2)	NP_001171940.1:n.*929C>T
NM_005138.2:c.108G>A (SCO2)	NP_005129.2:p.Trp36Ter
NM_152299.3:c.*929C>T (NCAPH2)	NP_689512.2:n.*929C>T
XR_001755232.1:n.2957C>T (NCAPH2)
NM_152299.4:c.*929C>T (NCAPH2) MANE Select	NP_689512.2:n.*929C>T
NM_001185011.2:c.*929C>T (NCAPH2)	NP_001171940.1:n.*929C>T
NM_005138.3:c.108G>A (SCO2) MANE Select	NP_005129.2:p.Trp36Ter
NM_001169109.2:c.108G>A (SCO2)	NP_001162580.1:p.Trp36Ter
NM_001169111.2:c.108G>A (SCO2)	NP_001162582.1:p.Trp36Ter