Canonical Allele Identifier: CA350916372

Gene: SP110 SP140

Linked Data

• MyVariant Identifiers: chr2:g.231077551G>T (hg19) ; chr2:g.230212836G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.230212836G>T , CM000664.2:g.230212836G>T	GRCh38
NC_000002.11:g.231077551G>T , CM000664.1:g.231077551G>T	GRCh37
NC_000002.10:g.230785795G>T	NCBI36
NG_008295.1:g.12277C>A , LRG_109:g.12277C>A
NG_051286.1:g.14913G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000462232.2:c.-102C>A (SP110)	ENSP00000513566.1:n.-102C>A
ENST00000489597.2:c.508C>A (SP110)	ENSP00000513565.1:p.Leu170Met
ENST00000698099.1:c.508C>A (SP110)	ENSP00000513563.1:p.Leu170Met
ENST00000698100.1:c.508C>A (SP110)	ENSP00000513564.1:p.Leu170Met
ENST00000698102.1:n.649C>A (SP110)
ENST00000698103.1:c.508C>A (SP110)	ENSP00000513567.1:p.Leu170Met
ENST00000698104.1:n.649C>A (SP110)
ENST00000258381.11:c.508C>A (SP110) MANE Select	ENSP00000258381.6:p.Leu170Met
ENST00000258382.10:c.508C>A (SP110)	ENSP00000258382.5:p.Leu170Met
ENST00000358662.9:c.508C>A (SP110)	ENSP00000351488.4:p.Leu170Met
ENST00000540870.5:c.526C>A (SP110)	ENSP00000439558.1:p.Leu176Met
ENST00000258381.10:c.508C>A (SP110)	ENSP00000258381.6:p.Leu170Met
ENST00000258382.9:c.508C>A (SP110)	ENSP00000258382.5:p.Leu170Met
ENST00000358662.8:c.508C>A (SP110)	ENSP00000351488.4:p.Leu170Met
ENST00000392048.7:c.508C>A (SP110)	ENSP00000375902.3:p.Leu170Met
ENST00000409815.6:c.508C>A (SP110)	ENSP00000387172.2:p.Leu170Met
ENST00000441657.1:n.71-818G>T (SP140)
ENST00000455674.2:c.370C>A (SP110)	ENSP00000393992.1:p.Leu124Met
ENST00000456542.5:c.-322-818G>T (SP140)	ENSP00000475284.1:n.-322-818G>T
ENST00000462232.1:n.477C>A (SP110)
ENST00000486146.2:n.70C>A (SP110)
ENST00000540870.4:c.526C>A	ENSP00000439558.1:p.Leu176Met
NM_001185015.1:c.526C>A (SP110)	NP_001171944.1:p.Leu176Met
NM_004509.3:c.508C>A (SP110)	NP_004500.3:p.Leu170Met
NM_004510.3:c.508C>A (SP110)	NP_004501.3:p.Leu170Met
NM_080424.2:c.508C>A , LRG_109t1:c.508C>A (SP110)	NP_536349.2:p.Leu170Met
XM_005246525.2:c.526C>A (SP110)	XP_005246582.1:p.Leu176Met
XM_006712487.2:c.526C>A (SP110)	XP_006712550.1:p.Leu176Met
XM_006712489.2:c.526C>A (SP110)	XP_006712552.1:p.Leu176Met
XM_011510517.1:c.-233-818G>T (SP140)	XP_011508819.1:n.-233-818G>T
XM_011511088.1:c.526C>A (SP110)	XP_011509390.1:p.Leu176Met
XM_011511089.1:c.508C>A (SP110)	XP_011509391.1:p.Leu170Met
XM_011511090.1:c.526C>A (SP110)	XP_011509392.1:p.Leu176Met
XM_011511091.1:c.526C>A (SP110)	XP_011509393.1:p.Leu176Met
XM_011511092.1:c.-102C>A (SP110)	XP_011509394.1:n.-102C>A
XM_005246525.4:c.526C>A (SP110)	XP_005246582.1:p.Leu176Met
XM_006712487.3:c.526C>A (SP110)	XP_006712550.1:p.Leu176Met
XM_006712489.4:c.526C>A (SP110)	XP_006712552.1:p.Leu176Met
XM_011510517.3:c.-233-818G>T (SP140)	XP_011508819.1:n.-233-818G>T
XM_011511088.3:c.526C>A (SP110)	XP_011509390.1:p.Leu176Met
XM_011511089.3:c.508C>A (SP110)	XP_011509391.1:p.Leu170Met
XM_011511090.3:c.526C>A (SP110)	XP_011509392.1:p.Leu176Met
XM_011511091.3:c.526C>A (SP110)	XP_011509393.1:p.Leu176Met
XM_011511092.3:c.-102C>A (SP110)	XP_011509394.1:n.-102C>A
XM_017003968.2:c.526C>A (SP110)	XP_016859457.1:p.Leu176Met
XM_017003969.1:c.526C>A (SP110)	XP_016859458.1:p.Leu176Met
XM_024452850.1:c.526C>A (SP110)	XP_024308618.1:p.Leu176Met
XM_024452851.1:c.508C>A (SP110)	XP_024308619.1:p.Leu170Met
NM_001185015.2:c.526C>A (SP110)	NP_001171944.1:p.Leu176Met
NM_004509.4:c.508C>A (SP110)	NP_004500.4:p.Leu170Met
NM_004510.4:c.508C>A (SP110)	NP_004501.4:p.Leu170Met
NM_080424.3:c.508C>A (SP110)	NP_536349.3:p.Leu170Met
NM_001378442.1:c.526C>A (SP110)	NP_001365371.1:p.Leu176Met
NM_001378443.1:c.508C>A (SP110)	NP_001365372.1:p.Leu170Met
NM_001378444.1:c.526C>A (SP110)	NP_001365373.1:p.Leu176Met
NM_001378445.1:c.526C>A (SP110)	NP_001365374.1:p.Leu176Met
NM_001378446.1:c.526C>A (SP110)	NP_001365375.1:p.Leu176Met
NM_001378447.1:c.508C>A (SP110)	NP_001365376.1:p.Leu170Met
NM_004509.5:c.508C>A (SP110)	NP_004500.4:p.Leu170Met
NM_080424.4:c.508C>A (SP110) MANE Select	NP_536349.3:p.Leu170Met