Canonical Allele Identifier: CA350916125

Gene: SP110 SP140

Linked Data

• ClinVar Variation Id: 1347134
• ClinVar RCV Id: RCV002050516
• dbSNP Id: rs2044640933
• gnomAD v4: 2-230212775-C-A
• MyVariant Identifiers: chr2:g.231077490C>A (hg19) ; chr2:g.230212775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230212775C>A , CM000664.2:g.230212775C>A	GRCh38
NC_000002.11:g.231077490C>A , CM000664.1:g.231077490C>A	GRCh37
NC_000002.10:g.230785734C>A	NCBI36
NG_008295.1:g.12338G>T , LRG_109:g.12338G>T
NG_051286.1:g.14852C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462232.2:c.-41G>T (SP110)	ENSP00000513566.1:n.-41G>T
ENST00000489597.2:c.569G>T (SP110)	ENSP00000513565.1:p.Gly190Val
ENST00000698099.1:c.569G>T (SP110)	ENSP00000513563.1:p.Gly190Val
ENST00000698100.1:c.569G>T (SP110)	ENSP00000513564.1:p.Gly190Val
ENST00000698102.1:n.710G>T (SP110)
ENST00000698103.1:c.569G>T (SP110)	ENSP00000513567.1:p.Gly190Val
ENST00000698104.1:n.710G>T (SP110)
ENST00000258381.11:c.569G>T (SP110) MANE Select	ENSP00000258381.6:p.Gly190Val
ENST00000258382.10:c.569G>T (SP110)	ENSP00000258382.5:p.Gly190Val
ENST00000358662.9:c.569G>T (SP110)	ENSP00000351488.4:p.Gly190Val
ENST00000540870.5:c.587G>T (SP110)	ENSP00000439558.1:p.Gly196Val
ENST00000258381.10:c.569G>T (SP110)	ENSP00000258381.6:p.Gly190Val
ENST00000258382.9:c.569G>T (SP110)	ENSP00000258382.5:p.Gly190Val
ENST00000358662.8:c.569G>T (SP110)	ENSP00000351488.4:p.Gly190Val
ENST00000392048.7:c.569G>T (SP110)	ENSP00000375902.3:p.Gly190Val
ENST00000409815.6:c.569G>T (SP110)	ENSP00000387172.2:p.Gly190Val
ENST00000441657.1:n.71-879C>A (SP140)
ENST00000455674.2:c.431G>T (SP110)	ENSP00000393992.1:p.Gly144Val
ENST00000456542.5:c.-322-879C>A (SP140)	ENSP00000475284.1:n.-322-879C>A
ENST00000462232.1:n.538G>T (SP110)
ENST00000486146.2:n.131G>T (SP110)
ENST00000540870.4:c.587G>T	ENSP00000439558.1:p.Gly196Val
NM_001185015.1:c.587G>T (SP110)	NP_001171944.1:p.Gly196Val
NM_004509.3:c.569G>T (SP110)	NP_004500.3:p.Gly190Val
NM_004510.3:c.569G>T (SP110)	NP_004501.3:p.Gly190Val
NM_080424.2:c.569G>T , LRG_109t1:c.569G>T (SP110)	NP_536349.2:p.Gly190Val
XM_005246525.2:c.587G>T (SP110)	XP_005246582.1:p.Gly196Val
XM_006712487.2:c.587G>T (SP110)	XP_006712550.1:p.Gly196Val
XM_006712489.2:c.587G>T (SP110)	XP_006712552.1:p.Gly196Val
XM_011510517.1:c.-233-879C>A (SP140)	XP_011508819.1:n.-233-879C>A
XM_011511088.1:c.587G>T (SP110)	XP_011509390.1:p.Gly196Val
XM_011511089.1:c.569G>T (SP110)	XP_011509391.1:p.Gly190Val
XM_011511090.1:c.587G>T (SP110)	XP_011509392.1:p.Gly196Val
XM_011511091.1:c.587G>T (SP110)	XP_011509393.1:p.Gly196Val
XM_011511092.1:c.-41G>T (SP110)	XP_011509394.1:n.-41G>T
XM_005246525.4:c.587G>T (SP110)	XP_005246582.1:p.Gly196Val
XM_006712487.3:c.587G>T (SP110)	XP_006712550.1:p.Gly196Val
XM_006712489.4:c.587G>T (SP110)	XP_006712552.1:p.Gly196Val
XM_011510517.3:c.-233-879C>A (SP140)	XP_011508819.1:n.-233-879C>A
XM_011511088.3:c.587G>T (SP110)	XP_011509390.1:p.Gly196Val
XM_011511089.3:c.569G>T (SP110)	XP_011509391.1:p.Gly190Val
XM_011511090.3:c.587G>T (SP110)	XP_011509392.1:p.Gly196Val
XM_011511091.3:c.587G>T (SP110)	XP_011509393.1:p.Gly196Val
XM_011511092.3:c.-41G>T (SP110)	XP_011509394.1:n.-41G>T
XM_017003968.2:c.587G>T (SP110)	XP_016859457.1:p.Gly196Val
XM_017003969.1:c.587G>T (SP110)	XP_016859458.1:p.Gly196Val
XM_024452850.1:c.587G>T (SP110)	XP_024308618.1:p.Gly196Val
XM_024452851.1:c.569G>T (SP110)	XP_024308619.1:p.Gly190Val
NM_001185015.2:c.587G>T (SP110)	NP_001171944.1:p.Gly196Val
NM_004509.4:c.569G>T (SP110)	NP_004500.4:p.Gly190Val
NM_004510.4:c.569G>T (SP110)	NP_004501.4:p.Gly190Val
NM_080424.3:c.569G>T (SP110)	NP_536349.3:p.Gly190Val
NM_001378442.1:c.587G>T (SP110)	NP_001365371.1:p.Gly196Val
NM_001378443.1:c.569G>T (SP110)	NP_001365372.1:p.Gly190Val
NM_001378444.1:c.587G>T (SP110)	NP_001365373.1:p.Gly196Val
NM_001378445.1:c.587G>T (SP110)	NP_001365374.1:p.Gly196Val
NM_001378446.1:c.587G>T (SP110)	NP_001365375.1:p.Gly196Val
NM_001378447.1:c.569G>T (SP110)	NP_001365376.1:p.Gly190Val
NM_004509.5:c.569G>T (SP110)	NP_004500.4:p.Gly190Val
NM_080424.4:c.569G>T (SP110) MANE Select	NP_536349.3:p.Gly190Val