Canonical Allele Identifier: CA490508310

Gene: SPPL2A

Linked Data

• ClinVar Variation Id: 1636992
• ClinVar RCV Id: RCV002135615
• dbSNP Id: rs752242047
• gnomAD v2: 15-51057652-C-T
• gnomAD v3: 15-50765455-C-T
• gnomAD v4: 15-50765455-C-T
• MyVariant Identifiers: chr15:g.51057652C>T (hg19) ; chr15:g.50765455C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.50765455C>T , CM000677.2:g.50765455C>T	GRCh38
NC_000015.9:g.51057652C>T , CM000677.1:g.51057652C>T	GRCh37
NC_000015.8:g.48844944C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000559293.2:c.66+13G>A	ENSP00000513578.1:n.66+13G>A
ENST00000698130.1:n.241+13G>A
ENST00000698131.1:c.66+13G>A	ENSP00000513576.1:n.66+13G>A
ENST00000698132.1:c.66+13G>A	ENSP00000513577.1:n.66+13G>A
ENST00000698133.1:c.66+13G>A	ENSP00000513579.1:n.66+13G>A
ENST00000698134.1:c.66+13G>A	ENSP00000513580.1:n.66+13G>A
ENST00000698135.1:c.66+13G>A	ENSP00000513581.1:n.66+13G>A
ENST00000698136.1:n.241+13G>A
ENST00000698137.1:n.241+13G>A
ENST00000698138.1:n.241+13G>A
ENST00000698140.1:n.241+13G>A
ENST00000261854.10:c.66+13G>A MANE Select	ENSP00000261854.5:n.66+13G>A
ENST00000261854.9:c.66+13G>A	ENSP00000261854.5:n.66+13G>A
ENST00000560288.1:n.242+13G>A
NM_032802.3:c.66+13G>A	NP_116191.2:n.66+13G>A
XM_005254722.2:c.66+13G>A	XP_005254779.1:n.66+13G>A
XM_011522113.1:c.120+569G>A	XP_011520415.1:n.120+569G>A
XM_011522114.1:c.120+569G>A	XP_011520416.1:n.120+569G>A
XM_011522115.1:c.120+569G>A	XP_011520417.1:n.120+569G>A
XM_011522116.1:c.120+569G>A	XP_011520418.1:n.120+569G>A
XM_005254722.3:c.66+13G>A	XP_005254779.1:n.66+13G>A
XM_017022680.1:c.66+13G>A	XP_016878169.1:n.66+13G>A
XM_017022681.1:c.66+13G>A	XP_016878170.1:n.66+13G>A
NM_032802.4:c.66+13G>A MANE Select	NP_116191.2:n.66+13G>A