Canonical Allele Identifier: CA2739271207

Gene: LIMS2

Linked Data

• ClinVar Variation Id: 2807933
• ClinVar RCV Id: RCV003755370

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127640065C>G , CM000664.2:g.127640065C>G	GRCh38
NC_000002.11:g.128397640C>G , CM000664.1:g.128397640C>G	GRCh37
NC_000002.10:g.128114110C>G	NCBI36
NG_042235.1:g.46722G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355119.9:c.878+5G>C MANE Select	ENSP00000347240.4:n.878+5G>C
ENST00000324938.9:c.950+5G>C	ENSP00000326888.5:n.950+5G>C
ENST00000355119.8:c.878+5G>C	ENSP00000347240.4:n.878+5G>C
ENST00000409254.1:c.422+5G>C	ENSP00000386907.1:n.422+5G>C
ENST00000409286.5:c.422+5G>C	ENSP00000386252.1:n.422+5G>C
ENST00000409455.5:c.863+5G>C	ENSP00000386383.1:n.863+5G>C
ENST00000409754.5:c.422+5G>C	ENSP00000386345.1:n.422+5G>C
ENST00000409808.6:c.863+5G>C	ENSP00000386637.2:n.863+5G>C
ENST00000410011.5:c.863+5G>C	ENSP00000387002.1:n.863+5G>C
ENST00000410038.5:c.422+5G>C	ENSP00000386570.1:n.422+5G>C
ENST00000413578.5:c.*88+5G>C	ENSP00000388611.1:n.*88+5G>C
ENST00000426981.5:c.361+5G>C
ENST00000466410.5:n.1591+5G>C
ENST00000469300.6:n.3803+5G>C
ENST00000476932.5:n.1266+5G>C
ENST00000484252.5:n.1098+5G>C
ENST00000494613.5:n.134+205G>C
ENST00000545738.6:c.944+5G>C	ENSP00000443794.2:n.944+5G>C
ENST00000612860.4:c.602+5G>C	ENSP00000484949.1:n.602+5G>C
NM_001136037.2:c.944+5G>C	NP_001129509.2:n.944+5G>C
NM_001161403.1:c.878+5G>C	NP_001154875.1:n.878+5G>C
NM_001161404.1:c.863+5G>C	NP_001154876.1:n.863+5G>C
NM_001256542.1:c.422+5G>C	NP_001243471.1:n.422+5G>C
NM_017980.4:c.950+5G>C	NP_060450.2:n.950+5G>C
XM_005263709.2:c.863+5G>C	XP_005263766.1:n.863+5G>C
XM_005263710.2:c.671+5G>C	XP_005263767.1:n.671+5G>C
XM_006712627.2:c.530+5G>C	XP_006712690.1:n.530+5G>C
XM_011511453.1:c.827+5G>C	XP_011509755.1:n.827+5G>C
XR_922961.1:n.1042+5G>C
XM_006712627.4:c.530+5G>C	XP_006712690.1:n.530+5G>C
XM_017004469.1:c.569+5G>C	XP_016859958.1:n.569+5G>C
XM_024452983.1:c.863+5G>C	XP_024308751.1:n.863+5G>C
XM_024452984.1:c.863+5G>C	XP_024308752.1:n.863+5G>C
XM_024452985.1:c.422+5G>C	XP_024308753.1:n.422+5G>C
XM_024452986.1:c.422+5G>C	XP_024308754.1:n.422+5G>C
XR_922961.2:n.1042+5G>C
NM_001136037.3:c.944+5G>C	NP_001129509.2:n.944+5G>C
NM_001161403.2:c.878+5G>C	NP_001154875.1:n.878+5G>C
NM_001136037.4:c.944+5G>C	NP_001129509.2:n.944+5G>C
NM_001161403.3:c.878+5G>C MANE Select	NP_001154875.1:n.878+5G>C
NM_001161404.2:c.863+5G>C	NP_001154876.1:n.863+5G>C
NM_001256542.2:c.422+5G>C	NP_001243471.1:n.422+5G>C
NM_017980.5:c.950+5G>C	NP_060450.2:n.950+5G>C