Canonical Allele Identifier: CA570053408
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 551956
dbSNP Id: rs1165542235

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129250122_129250124del , CM000668.2:g.129250122_129250124del GRCh38
NC_000006.11:g.129571267_129571269del , CM000668.1:g.129571267_129571269del GRCh37
NC_000006.10:g.129612960_129612962del NCBI36
NG_008678.1:g.371982_371984del , LRG_409:g.371982_371984del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.1793_1795del ENSP00000481744.2:p.Val598del
ENST00000618192.5:c.1793_1795del ENSP00000480802.2:p.Val598del
ENST00000421865.3:c.1793_1795del MANE Select ENSP00000400365.2:p.Val598del
ENST00000421865.2:c.1793_1795del ENSP00000400365.2:p.Val598del
ENST00000617695.4:c.1793_1795del ENSP00000481744.1:p.Val598del
ENST00000618192.4:c.1793_1795del ENSP00000480802.1:p.Val598del
NM_000426.3:c.1793_1795del , LRG_409t1:c.1793_1795del NP_000417.2:p.Val598del
NM_001079823.1:c.1793_1795del NP_001073291.1:p.Val598del
XM_005266981.2:c.1793_1795del XP_005267038.1:p.Val598del
XM_005266982.2:c.1793_1795del XP_005267039.1:p.Val598del
XM_011535820.1:c.1793_1795del XP_011534122.1:p.Val598del
XM_005266981.3:c.1793_1795del XP_005267038.1:p.Val598del
XM_005266982.3:c.1793_1795del XP_005267039.1:p.Val598del
XM_011535820.2:c.1793_1795del XP_011534122.1:p.Val598del
XM_017010851.2:c.1799_1801del XP_016866340.1:p.Val600del
XM_017010852.1:c.-77_-75del XP_016866341.1:n.-77_-75del
XM_017010853.1:c.1793_1795del XP_016866342.1:p.Val598del
NM_000426.4:c.1793_1795del MANE Select NP_000417.3:p.Val598del
NM_001079823.2:c.1793_1795del NP_001073291.2:p.Val598del