Canonical Allele Identifier: CA2154787

Gene: SP110 SP140

Linked Data

• ClinVar Variation Id: 334913
• ClinVar RCV Id: RCV000344535 ; RCV001281000 ; RCV001706546 ; RCV003969964
• dbSNP Id: rs148591984
• ExAC: 2:231077155 G / C
• gnomAD v2: 2-231077155-G-C
• gnomAD v3: 2-230212440-G-C
• gnomAD v4: 2-230212440-G-C
• MyVariant Identifiers: chr2:g.231077155G>C (hg19) ; chr2:g.230212440G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230212440G>C , CM000664.2:g.230212440G>C	GRCh38
NC_000002.11:g.231077155G>C , CM000664.1:g.231077155G>C	GRCh37
NC_000002.10:g.230785399G>C	NCBI36
NG_008295.1:g.12673C>G , LRG_109:g.12673C>G
NG_051286.1:g.14517G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000462232.2:c.-26-10C>G (SP110)	ENSP00000513566.1:n.-26-10C>G
ENST00000489597.2:c.584-10C>G (SP110)	ENSP00000513565.1:n.584-10C>G
ENST00000698099.1:c.584-10C>G (SP110)	ENSP00000513563.1:n.584-10C>G
ENST00000698100.1:c.584-10C>G (SP110)	ENSP00000513564.1:n.584-10C>G
ENST00000698102.1:n.725-10C>G (SP110)
ENST00000698103.1:c.584-10C>G (SP110)	ENSP00000513567.1:n.584-10C>G
ENST00000698104.1:n.725-10C>G (SP110)
ENST00000258381.11:c.584-10C>G (SP110) MANE Select	ENSP00000258381.6:n.584-10C>G
ENST00000258382.10:c.584-10C>G (SP110)	ENSP00000258382.5:n.584-10C>G
ENST00000358662.9:c.584-10C>G (SP110)	ENSP00000351488.4:n.584-10C>G
ENST00000540870.5:c.602-10C>G (SP110)	ENSP00000439558.1:n.602-10C>G
ENST00000258381.10:c.584-10C>G (SP110)	ENSP00000258381.6:n.584-10C>G
ENST00000258382.9:c.584-10C>G (SP110)	ENSP00000258382.5:n.584-10C>G
ENST00000358662.8:c.584-10C>G (SP110)	ENSP00000351488.4:n.584-10C>G
ENST00000392048.7:c.584-10C>G (SP110)	ENSP00000375902.3:n.584-10C>G
ENST00000409815.6:c.584-10C>G (SP110)	ENSP00000387172.2:n.584-10C>G
ENST00000441657.1:n.71-1214G>C (SP140)
ENST00000455674.2:c.446-10C>G (SP110)	ENSP00000393992.1:n.446-10C>G
ENST00000456542.5:c.-322-1214G>C (SP140)	ENSP00000475284.1:n.-322-1214G>C
ENST00000462232.1:n.553-10C>G (SP110)
ENST00000486146.2:n.146-10C>G (SP110)
ENST00000540870.4:c.602-10C>G	ENSP00000439558.1:n.602-10C>G
NM_001185015.1:c.602-10C>G (SP110)	NP_001171944.1:n.602-10C>G
NM_004509.3:c.584-10C>G (SP110)	NP_004500.3:n.584-10C>G
NM_004510.3:c.584-10C>G (SP110)	NP_004501.3:n.584-10C>G
NM_080424.2:c.584-10C>G , LRG_109t1:c.584-10C>G (SP110)	NP_536349.2:n.584-10C>G
XM_005246525.2:c.602-10C>G (SP110)	XP_005246582.1:n.602-10C>G
XM_006712487.2:c.602-10C>G (SP110)	XP_006712550.1:n.602-10C>G
XM_006712489.2:c.602-10C>G (SP110)	XP_006712552.1:n.602-10C>G
XM_011510517.1:c.-233-1214G>C (SP140)	XP_011508819.1:n.-233-1214G>C
XM_011511088.1:c.602-10C>G (SP110)	XP_011509390.1:n.602-10C>G
XM_011511089.1:c.584-10C>G (SP110)	XP_011509391.1:n.584-10C>G
XM_011511090.1:c.602-10C>G (SP110)	XP_011509392.1:n.602-10C>G
XM_011511091.1:c.602-10C>G (SP110)	XP_011509393.1:n.602-10C>G
XM_011511092.1:c.-26-10C>G (SP110)	XP_011509394.1:n.-26-10C>G
XM_005246525.4:c.602-10C>G (SP110)	XP_005246582.1:n.602-10C>G
XM_006712487.3:c.602-10C>G (SP110)	XP_006712550.1:n.602-10C>G
XM_006712489.4:c.602-10C>G (SP110)	XP_006712552.1:n.602-10C>G
XM_011510517.3:c.-233-1214G>C (SP140)	XP_011508819.1:n.-233-1214G>C
XM_011511088.3:c.602-10C>G (SP110)	XP_011509390.1:n.602-10C>G
XM_011511089.3:c.584-10C>G (SP110)	XP_011509391.1:n.584-10C>G
XM_011511090.3:c.602-10C>G (SP110)	XP_011509392.1:n.602-10C>G
XM_011511091.3:c.602-10C>G (SP110)	XP_011509393.1:n.602-10C>G
XM_011511092.3:c.-26-10C>G (SP110)	XP_011509394.1:n.-26-10C>G
XM_017003968.2:c.602-10C>G (SP110)	XP_016859457.1:n.602-10C>G
XM_017003969.1:c.602-10C>G (SP110)	XP_016859458.1:n.602-10C>G
XM_024452850.1:c.602-10C>G (SP110)	XP_024308618.1:n.602-10C>G
XM_024452851.1:c.584-10C>G (SP110)	XP_024308619.1:n.584-10C>G
NM_001185015.2:c.602-10C>G (SP110)	NP_001171944.1:n.602-10C>G
NM_004509.4:c.584-10C>G (SP110)	NP_004500.4:n.584-10C>G
NM_004510.4:c.584-10C>G (SP110)	NP_004501.4:n.584-10C>G
NM_080424.3:c.584-10C>G (SP110)	NP_536349.3:n.584-10C>G
NM_001378442.1:c.602-10C>G (SP110)	NP_001365371.1:n.602-10C>G
NM_001378443.1:c.584-10C>G (SP110)	NP_001365372.1:n.584-10C>G
NM_001378444.1:c.602-10C>G (SP110)	NP_001365373.1:n.602-10C>G
NM_001378445.1:c.602-10C>G (SP110)	NP_001365374.1:n.602-10C>G
NM_001378446.1:c.602-10C>G (SP110)	NP_001365375.1:n.602-10C>G
NM_001378447.1:c.584-10C>G (SP110)	NP_001365376.1:n.584-10C>G
NM_004509.5:c.584-10C>G (SP110)	NP_004500.4:n.584-10C>G
NM_080424.4:c.584-10C>G (SP110) MANE Select	NP_536349.3:n.584-10C>G