Canonical Allele Identifier: CA55389810
Community Standard Title: NM_001161403.3(LIMS2):c.12-6748A>G
Gene: LIMS2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.127664310T>C , CM000664.2:g.127664310T>C GRCh38
NC_000002.11:g.128421884T>C , CM000664.1:g.128421884T>C GRCh37
NC_000002.10:g.128138354T>C NCBI36
NG_042235.1:g.22477A>G

Transcript Alleles

HGVS Amino-acid Change
NM_001161403.3:c.12-6748A>G MANE Select NP_001154875.1:n.12-6748A>G
ENST00000355119.9:c.12-6748A>G MANE Select ENSP00000347240.4:n.12-6748A>G
NM_001136037.2:c.78-6748A>G NP_001129509.2:n.78-6748A>G
NM_001136037.3:c.78-6748A>G NP_001129509.2:n.78-6748A>G
NM_001136037.4:c.78-6748A>G NP_001129509.2:n.78-6748A>G
NM_001161403.1:c.12-6748A>G NP_001154875.1:n.12-6748A>G
NM_001161403.2:c.12-6748A>G NP_001154875.1:n.12-6748A>G
NM_001161404.1:c.-4-6748A>G NP_001154876.1:n.-4-6748A>G
NM_001161404.2:c.-4-6748A>G NP_001154876.1:n.-4-6748A>G
NM_017980.4:c.79A>G NP_060450.2:p.Thr27Ala
NM_017980.5:c.79A>G NP_060450.2:p.Thr27Ala
ENST00000324938.9:c.79A>G ENSP00000326888.5:p.Thr27Ala
ENST00000355119.8:c.12-6748A>G ENSP00000347240.4:n.12-6748A>G
ENST00000409455.5:c.-4-6748A>G ENSP00000386383.1:n.-4-6748A>G
ENST00000409808.6:c.-4-6748A>G ENSP00000386637.2:n.-4-6748A>G
ENST00000410011.5:c.-4-6748A>G ENSP00000387002.1:n.-4-6748A>G
ENST00000466410.5:n.143A>G
ENST00000476932.5:n.110A>G
ENST00000545738.6:c.78-6748A>G ENSP00000443794.2:n.78-6748A>G
XM_005263709.2:c.-4-6748A>G XP_005263766.1:n.-4-6748A>G
XM_005263710.2:c.-36-9414A>G XP_005263767.1:n.-36-9414A>G
XM_006712627.2:c.11+10704A>G XP_006712690.1:n.11+10704A>G
XM_006712627.4:c.11+10704A>G XP_006712690.1:n.11+10704A>G
XM_006712628.2:c.79A>G XP_006712691.1:p.Thr27Ala
XM_006712628.3:c.79A>G XP_006712691.1:p.Thr27Ala
XM_011511453.1:c.79A>G XP_011509755.1:p.Thr27Ala
XM_024452983.1:c.-4-6748A>G XP_024308751.1:n.-4-6748A>G
XR_922961.1:n.143A>G
XR_922961.2:n.143A>G