Canonical Allele Identifier: CA10612733

Gene: SP110

Linked Data

• ClinVar Variation Id: 334908
• ClinVar RCV Id: RCV000280283
• dbSNP Id: rs886055765
• gnomAD v2: 2-231067443-C-T
• gnomAD v3: 2-230202727-C-T
• gnomAD v4: 2-230202727-C-T
• MyVariant Identifiers: chr2:g.231067443C>T (hg19) ; chr2:g.230202727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230202727C>T , CM000664.2:g.230202727C>T	GRCh38
NC_000002.11:g.231067443C>T , CM000664.1:g.231067443C>T	GRCh37
NC_000002.10:g.230775687C>T	NCBI36
NG_008295.1:g.22385G>A , LRG_109:g.22385G>A
NG_051286.1:g.4804C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462232.2:c.291G>A	ENSP00000513566.1:p.Gly97=
ENST00000489597.2:c.900G>A	ENSP00000513565.1:p.Gly300=
ENST00000698099.1:c.900G>A	ENSP00000513563.1:p.Gly300=
ENST00000698100.1:c.899-1762G>A	ENSP00000513564.1:n.899-1762G>A
ENST00000698102.1:n.1041G>A
ENST00000698103.1:c.899-1762G>A	ENSP00000513567.1:n.899-1762G>A
ENST00000698104.1:n.1041G>A
ENST00000258381.11:c.900G>A MANE Select	ENSP00000258381.6:p.Gly300=
ENST00000258382.10:c.900G>A	ENSP00000258382.5:p.Gly300=
ENST00000358662.9:c.900G>A	ENSP00000351488.4:p.Gly300=
ENST00000540870.5:c.918G>A	ENSP00000439558.1:p.Gly306=
ENST00000258381.10:c.900G>A	ENSP00000258381.6:p.Gly300=
ENST00000258382.9:c.900G>A	ENSP00000258382.5:p.Gly300=
ENST00000358662.8:c.900G>A	ENSP00000351488.4:p.Gly300=
ENST00000392048.7:c.899-5G>A	ENSP00000375902.3:n.899-5G>A
ENST00000490880.5:n.227G>A
ENST00000540870.4:c.918G>A	ENSP00000439558.1:p.Gly306=
NM_001185015.1:c.918G>A	NP_001171944.1:p.Gly306=
NM_004509.3:c.900G>A	NP_004500.3:p.Gly300=
NM_004510.3:c.900G>A	NP_004501.3:p.Gly300=
NM_080424.2:c.900G>A , LRG_109t1:c.900G>A	NP_536349.2:p.Gly300=
XM_005246525.2:c.918G>A	XP_005246582.1:p.Gly306=
XM_006712487.2:c.918G>A	XP_006712550.1:p.Gly306=
XM_006712489.2:c.918G>A	XP_006712552.1:p.Gly306=
XM_011511088.1:c.918G>A	XP_011509390.1:p.Gly306=
XM_011511089.1:c.900G>A	XP_011509391.1:p.Gly300=
XM_011511090.1:c.917-1762G>A	XP_011509392.1:n.917-1762G>A
XM_011511091.1:c.918G>A	XP_011509393.1:p.Gly306=
XM_011511092.1:c.291G>A	XP_011509394.1:p.Gly97=
XM_005246525.4:c.918G>A	XP_005246582.1:p.Gly306=
XM_006712487.3:c.918G>A	XP_006712550.1:p.Gly306=
XM_006712489.4:c.918G>A	XP_006712552.1:p.Gly306=
XM_011511088.3:c.918G>A	XP_011509390.1:p.Gly306=
XM_011511089.3:c.900G>A	XP_011509391.1:p.Gly300=
XM_011511090.3:c.917-1762G>A	XP_011509392.1:n.917-1762G>A
XM_011511091.3:c.918G>A	XP_011509393.1:p.Gly306=
XM_011511092.3:c.291G>A	XP_011509394.1:p.Gly97=
XM_017003968.2:c.918G>A	XP_016859457.1:p.Gly306=
XM_017003969.1:c.917-1762G>A	XP_016859458.1:n.917-1762G>A
XM_024452850.1:c.917-1762G>A	XP_024308618.1:n.917-1762G>A
XM_024452851.1:c.899-1762G>A	XP_024308619.1:n.899-1762G>A
NM_001185015.2:c.918G>A	NP_001171944.1:p.Gly306=
NM_004509.4:c.900G>A	NP_004500.4:p.Gly300=
NM_004510.4:c.900G>A	NP_004501.4:p.Gly300=
NM_080424.3:c.900G>A	NP_536349.3:p.Gly300=
NM_001378442.1:c.918G>A	NP_001365371.1:p.Gly306=
NM_001378443.1:c.900G>A	NP_001365372.1:p.Gly300=
NM_001378444.1:c.918G>A	NP_001365373.1:p.Gly306=
NM_001378445.1:c.918G>A	NP_001365374.1:p.Gly306=
NM_001378446.1:c.918G>A	NP_001365375.1:p.Gly306=
NM_001378447.1:c.899-1762G>A	NP_001365376.1:n.899-1762G>A
NM_004509.5:c.900G>A	NP_004500.4:p.Gly300=
NM_080424.4:c.900G>A MANE Select	NP_536349.3:p.Gly300=