Canonical Allele Identifier: CA348424057

Gene: LIMS2

Linked Data

• ClinVar Variation Id: 659098
• ClinVar RCV Id: RCV000816043
• dbSNP Id: rs149101001
• MyVariant Identifiers: chr2:g.128397000G>C (hg19) ; chr2:g.127639425G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.127639425G>C , CM000664.2:g.127639425G>C	GRCh38
NC_000002.11:g.128397000G>C , CM000664.1:g.128397000G>C	GRCh37
NC_000002.10:g.128113470G>C	NCBI36
NG_042235.1:g.47362C>G
NG_052848.1:g.108737G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355119.9:c.882C>G MANE Select	ENSP00000347240.4:p.Asn294Lys
ENST00000324938.9:c.954C>G	ENSP00000326888.5:p.Asn318Lys
ENST00000355119.8:c.882C>G	ENSP00000347240.4:p.Asn294Lys
ENST00000409254.1:c.426C>G	ENSP00000386907.1:p.Asn142Lys
ENST00000409286.5:c.426C>G	ENSP00000386252.1:p.Asn142Lys
ENST00000409455.5:c.867C>G	ENSP00000386383.1:p.Asn289Lys
ENST00000409754.5:c.426C>G	ENSP00000386345.1:p.Asn142Lys
ENST00000409808.6:c.867C>G	ENSP00000386637.2:p.Asn289Lys
ENST00000410011.5:c.867C>G	ENSP00000387002.1:p.Asn289Lys
ENST00000410038.5:c.426C>G	ENSP00000386570.1:p.Asn142Lys
ENST00000413578.5:c.*92C>G	ENSP00000388611.1:n.*92C>G
ENST00000426981.5:c.365C>G
ENST00000466410.5:n.1595C>G
ENST00000469300.6:n.3807C>G
ENST00000476932.5:n.1270C>G
ENST00000484252.5:n.1102C>G
ENST00000494613.5:n.138C>G
ENST00000545738.6:c.948C>G	ENSP00000443794.2:p.Asn316Lys
ENST00000612860.4:c.606C>G	ENSP00000484949.1:p.Asn202Lys
NM_001136037.2:c.948C>G	NP_001129509.2:p.Asn316Lys
NM_001161403.1:c.882C>G	NP_001154875.1:p.Asn294Lys
NM_001161404.1:c.867C>G	NP_001154876.1:p.Asn289Lys
NM_001256542.1:c.426C>G	NP_001243471.1:p.Asn142Lys
NM_017980.4:c.954C>G	NP_060450.2:p.Asn318Lys
XM_005263709.2:c.867C>G	XP_005263766.1:p.Asn289Lys
XM_005263710.2:c.675C>G	XP_005263767.1:p.Asn225Lys
XM_006712627.2:c.534C>G	XP_006712690.1:p.Asn178Lys
XM_011511453.1:c.831C>G	XP_011509755.1:p.Asn277Lys
XR_922961.1:n.1046C>G
XM_006712627.4:c.534C>G	XP_006712690.1:p.Asn178Lys
XM_017004469.1:c.573C>G	XP_016859958.1:p.Asn191Lys
XM_024452983.1:c.867C>G	XP_024308751.1:p.Asn289Lys
XM_024452984.1:c.867C>G	XP_024308752.1:p.Asn289Lys
XM_024452985.1:c.426C>G	XP_024308753.1:p.Asn142Lys
XM_024452986.1:c.426C>G	XP_024308754.1:p.Asn142Lys
XR_922961.2:n.1046C>G
NM_001136037.3:c.948C>G	NP_001129509.2:p.Asn316Lys
NM_001161403.2:c.882C>G	NP_001154875.1:p.Asn294Lys
NM_001136037.4:c.948C>G	NP_001129509.2:p.Asn316Lys
NM_001161403.3:c.882C>G MANE Select	NP_001154875.1:p.Asn294Lys
NM_001161404.2:c.867C>G	NP_001154876.1:p.Asn289Lys
NM_001256542.2:c.426C>G	NP_001243471.1:p.Asn142Lys
NM_017980.5:c.954C>G	NP_060450.2:p.Asn318Lys