Canonical Allele Identifier: CA348431554

Gene: LIMS2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127654829C>A , CM000664.2:g.127654829C>A	GRCh38
NC_000002.11:g.128412403C>A , CM000664.1:g.128412403C>A	GRCh37
NC_000002.10:g.128128873C>A	NCBI36
NG_042235.1:g.31958G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001161403.3:c.238+1G>T MANE Select	NP_001154875.1:n.238+1G>T
ENST00000355119.9:c.238+1G>T MANE Select	ENSP00000347240.4:n.238+1G>T
NM_001136037.2:c.304+1G>T	NP_001129509.2:n.304+1G>T
NM_001136037.3:c.304+1G>T	NP_001129509.2:n.304+1G>T
NM_001136037.4:c.304+1G>T	NP_001129509.2:n.304+1G>T
NM_001161403.1:c.238+1G>T	NP_001154875.1:n.238+1G>T
NM_001161403.2:c.238+1G>T	NP_001154875.1:n.238+1G>T
NM_001161404.1:c.223+1G>T	NP_001154876.1:n.223+1G>T
NM_001161404.2:c.223+1G>T	NP_001154876.1:n.223+1G>T
NM_017980.4:c.310+1G>T	NP_060450.2:n.310+1G>T
NM_017980.5:c.310+1G>T	NP_060450.2:n.310+1G>T
ENST00000324938.9:c.310+1G>T	ENSP00000326888.5:n.310+1G>T
ENST00000355119.8:c.238+1G>T	ENSP00000347240.4:n.238+1G>T
ENST00000409455.5:c.223+1G>T	ENSP00000386383.1:n.223+1G>T
ENST00000409808.6:c.223+1G>T	ENSP00000386637.2:n.223+1G>T
ENST00000410011.5:c.223+1G>T	ENSP00000387002.1:n.223+1G>T
ENST00000466410.5:n.374+1G>T
ENST00000469300.6:n.1256+1G>T
ENST00000476932.5:n.342G>T
ENST00000545738.6:c.304+1G>T	ENSP00000443794.2:n.304+1G>T
XM_005263709.2:c.223+1G>T	XP_005263766.1:n.223+1G>T
XM_005263710.2:c.31+1G>T	XP_005263767.1:n.31+1G>T
XM_006712627.2:c.12-11757G>T	XP_006712690.1:n.12-11757G>T
XM_006712627.4:c.12-11757G>T	XP_006712690.1:n.12-11757G>T
XM_006712628.2:c.310+1G>T	XP_006712691.1:n.310+1G>T
XM_006712628.3:c.310+1G>T	XP_006712691.1:n.310+1G>T
XM_011511453.1:c.310+1G>T	XP_011509755.1:n.310+1G>T
XM_024452983.1:c.223+1G>T	XP_024308751.1:n.223+1G>T
XM_024452984.1:c.223+1G>T	XP_024308752.1:n.223+1G>T
XR_922961.1:n.374+1G>T
XR_922961.2:n.374+1G>T