Canonical Allele Identifier: CA3992869
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129267114G>T , CM000668.2:g.129267114G>T GRCh38
NC_000006.11:g.129588259G>T , CM000668.1:g.129588259G>T GRCh37
NC_000006.10:g.129629952G>T NCBI36
NG_008678.1:g.388974G>T , LRG_409:g.388974G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.2217G>T ENSP00000481744.2:p.Trp739Cys
ENST00000618192.5:c.2217G>T ENSP00000480802.2:p.Trp739Cys
ENST00000421865.3:c.2217G>T MANE Select ENSP00000400365.2:p.Trp739Cys
ENST00000421865.2:c.2217G>T ENSP00000400365.2:p.Trp739Cys
ENST00000617695.4:c.2217G>T ENSP00000481744.1:p.Trp739Cys
ENST00000618192.4:c.2217G>T ENSP00000480802.1:p.Trp739Cys
NM_000426.3:c.2217G>T , LRG_409t1:c.2217G>T NP_000417.2:p.Trp739Cys
NM_001079823.1:c.2217G>T NP_001073291.1:p.Trp739Cys
XM_005266981.2:c.2217G>T XP_005267038.1:p.Trp739Cys
XM_005266982.2:c.2217G>T XP_005267039.1:p.Trp739Cys
XM_011535820.1:c.2217G>T XP_011534122.1:p.Trp739Cys
XM_005266981.3:c.2217G>T XP_005267038.1:p.Trp739Cys
XM_005266982.3:c.2217G>T XP_005267039.1:p.Trp739Cys
XM_011535820.2:c.2217G>T XP_011534122.1:p.Trp739Cys
XM_017010851.2:c.2223G>T XP_016866340.1:p.Trp741Cys
XM_017010852.1:c.348G>T XP_016866341.1:p.Trp116Cys
XM_017010853.1:c.2217G>T XP_016866342.1:p.Trp739Cys
NM_000426.4:c.2217G>T MANE Select NP_000417.3:p.Trp739Cys
NM_001079823.2:c.2217G>T NP_001073291.2:p.Trp739Cys