Canonical Allele Identifier: CA515269366

Gene: SCO2 NCAPH2

Linked Data

• dbSNP Id: rs1478330729
• gnomAD v2: 22-50962917-C-A
• gnomAD v4: 22-50524488-C-A
• MyVariant Identifiers: chr22:g.50962917C>A (hg19) ; chr22:g.50524488C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50524488C>A , CM000684.2:g.50524488C>A	GRCh38
NC_000022.10:g.50962917C>A , CM000684.1:g.50962917C>A	GRCh37
NC_000022.9:g.49309783C>A	NCBI36
NG_011860.1:g.10598G>T , LRG_727:g.10598G>T
NG_016235.1:g.6952G>T
NG_021419.1:g.21273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395693.8:c.-13-64G>T (SCO2) MANE Select	ENSP00000379046.4:n.-13-64G>T
ENST00000420993.7:c.*1113C>A (NCAPH2) MANE Select	ENSP00000410088.2:n.*1113C>A
ENST00000543927.6:c.-13-64G>T (SCO2)	ENSP00000444433.1:n.-13-64G>T
ENST00000638598.2:c.-13-64G>T (SCO2)	ENSP00000491753.2:n.-13-64G>T
ENST00000252785.3:c.-13-64G>T	ENSP00000252785.3:n.-13-64G>T
ENST00000395693.7:c.-13-64G>T	ENSP00000379046.3:n.-13-64G>T
ENST00000423348.1:c.-13-64G>T	ENSP00000403570.1:n.-13-64G>T
ENST00000439934.5:c.-13-64G>T	ENSP00000415642.1:n.-13-64G>T
ENST00000535425.5:c.-13-64G>T	ENSP00000444242.1:n.-13-64G>T
ENST00000543927.5:c.-13-64G>T	ENSP00000444433.1:n.-13-64G>T
NM_001169109.1:c.-13-64G>T (SCO2)	NP_001162580.1:n.-13-64G>T
NM_001169110.1:c.-13-64G>T (SCO2)	NP_001162581.1:n.-13-64G>T
NM_001169111.1:c.-13-64G>T (SCO2)	NP_001162582.1:n.-13-64G>T
NM_001185011.1:c.*1113C>A (NCAPH2)	NP_001171940.1:n.*1113C>A
NM_005138.2:c.-13-64G>T (SCO2)	NP_005129.2:n.-13-64G>T
NM_152299.3:c.*1113C>A (NCAPH2)	NP_689512.2:n.*1113C>A
XR_001755232.1:n.3141C>A (NCAPH2)
NM_152299.4:c.*1113C>A (NCAPH2) MANE Select	NP_689512.2:n.*1113C>A
NM_001185011.2:c.*1113C>A (NCAPH2)	NP_001171940.1:n.*1113C>A
NM_005138.3:c.-13-64G>T (SCO2) MANE Select	NP_005129.2:n.-13-64G>T
NM_001169109.2:c.-13-64G>T (SCO2)	NP_001162580.1:n.-13-64G>T
NM_001169111.2:c.-13-64G>T (SCO2)	NP_001162582.1:n.-13-64G>T