Canonical Allele Identifier: CA348424068

Gene: LIMS2

Linked Data

• ClinVar Variation Id: 851713
• ClinVar RCV Id: RCV001056160
• dbSNP Id: rs1682170683
• MyVariant Identifiers: chr2:g.128397004C>T (hg19) ; chr2:g.127639429C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127639429C>T , CM000664.2:g.127639429C>T	GRCh38
NC_000002.11:g.128397004C>T , CM000664.1:g.128397004C>T	GRCh37
NC_000002.10:g.128113474C>T	NCBI36
NG_042235.1:g.47358G>A
NG_052848.1:g.108741C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355119.9:c.879-1G>A MANE Select	ENSP00000347240.4:n.879-1G>A
ENST00000324938.9:c.951-1G>A	ENSP00000326888.5:n.951-1G>A
ENST00000355119.8:c.879-1G>A	ENSP00000347240.4:n.879-1G>A
ENST00000409254.1:c.423-1G>A	ENSP00000386907.1:n.423-1G>A
ENST00000409286.5:c.423-1G>A	ENSP00000386252.1:n.423-1G>A
ENST00000409455.5:c.864-1G>A	ENSP00000386383.1:n.864-1G>A
ENST00000409754.5:c.423-1G>A	ENSP00000386345.1:n.423-1G>A
ENST00000409808.6:c.864-1G>A	ENSP00000386637.2:n.864-1G>A
ENST00000410011.5:c.864-1G>A	ENSP00000387002.1:n.864-1G>A
ENST00000410038.5:c.423-1G>A	ENSP00000386570.1:n.423-1G>A
ENST00000413578.5:c.*89-1G>A	ENSP00000388611.1:n.*89-1G>A
ENST00000426981.5:c.362-1G>A
ENST00000466410.5:n.1592-1G>A
ENST00000469300.6:n.3804-1G>A
ENST00000476932.5:n.1267-1G>A
ENST00000484252.5:n.1099-1G>A
ENST00000494613.5:n.135-1G>A
ENST00000545738.6:c.945-1G>A	ENSP00000443794.2:n.945-1G>A
ENST00000612860.4:c.603-1G>A	ENSP00000484949.1:n.603-1G>A
NM_001136037.2:c.945-1G>A	NP_001129509.2:n.945-1G>A
NM_001161403.1:c.879-1G>A	NP_001154875.1:n.879-1G>A
NM_001161404.1:c.864-1G>A	NP_001154876.1:n.864-1G>A
NM_001256542.1:c.423-1G>A	NP_001243471.1:n.423-1G>A
NM_017980.4:c.951-1G>A	NP_060450.2:n.951-1G>A
XM_005263709.2:c.864-1G>A	XP_005263766.1:n.864-1G>A
XM_005263710.2:c.672-1G>A	XP_005263767.1:n.672-1G>A
XM_006712627.2:c.531-1G>A	XP_006712690.1:n.531-1G>A
XM_011511453.1:c.828-1G>A	XP_011509755.1:n.828-1G>A
XR_922961.1:n.1043-1G>A
XM_006712627.4:c.531-1G>A	XP_006712690.1:n.531-1G>A
XM_017004469.1:c.570-1G>A	XP_016859958.1:n.570-1G>A
XM_024452983.1:c.864-1G>A	XP_024308751.1:n.864-1G>A
XM_024452984.1:c.864-1G>A	XP_024308752.1:n.864-1G>A
XM_024452985.1:c.423-1G>A	XP_024308753.1:n.423-1G>A
XM_024452986.1:c.423-1G>A	XP_024308754.1:n.423-1G>A
XR_922961.2:n.1043-1G>A
NM_001136037.3:c.945-1G>A	NP_001129509.2:n.945-1G>A
NM_001161403.2:c.879-1G>A	NP_001154875.1:n.879-1G>A
NM_001136037.4:c.945-1G>A	NP_001129509.2:n.945-1G>A
NM_001161403.3:c.879-1G>A MANE Select	NP_001154875.1:n.879-1G>A
NM_001161404.2:c.864-1G>A	NP_001154876.1:n.864-1G>A
NM_001256542.2:c.423-1G>A	NP_001243471.1:n.423-1G>A
NM_017980.5:c.951-1G>A	NP_060450.2:n.951-1G>A