Canonical Allele Identifier: CA3993913
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129401336T>G , CM000668.2:g.129401336T>G GRCh38
NC_000006.11:g.129722481T>G , CM000668.1:g.129722481T>G GRCh37
NC_000006.10:g.129764174T>G NCBI36
NG_008678.1:g.523196T>G , LRG_409:g.523196T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.5558T>G ENSP00000481744.2:p.Ile1853Arg
ENST00000618192.5:c.5822T>G ENSP00000480802.2:p.Ile1941Arg
ENST00000421865.3:c.5558T>G MANE Select ENSP00000400365.2:p.Ile1853Arg
ENST00000421865.2:c.5558T>G ENSP00000400365.2:p.Ile1853Arg
ENST00000617695.4:c.5558T>G ENSP00000481744.1:p.Ile1853Arg
ENST00000618192.4:c.5558T>G ENSP00000480802.1:p.Ile1853Arg
NM_000426.3:c.5558T>G , LRG_409t1:c.5558T>G NP_000417.2:p.Ile1853Arg
NM_001079823.1:c.5558T>G NP_001073291.1:p.Ile1853Arg
XM_005266981.2:c.5822T>G XP_005267038.1:p.Ile1941Arg
XM_005266982.2:c.5822T>G XP_005267039.1:p.Ile1941Arg
XM_011535820.1:c.5822T>G XP_011534122.1:p.Ile1941Arg
XM_005266981.3:c.5822T>G XP_005267038.1:p.Ile1941Arg
XM_005266982.3:c.5822T>G XP_005267039.1:p.Ile1941Arg
XM_011535820.2:c.5822T>G XP_011534122.1:p.Ile1941Arg
XM_017010851.2:c.5828T>G XP_016866340.1:p.Ile1943Arg
XM_017010852.1:c.3953T>G XP_016866341.1:p.Ile1318Arg
NM_000426.4:c.5558T>G MANE Select NP_000417.3:p.Ile1853Arg
NM_001079823.2:c.5558T>G NP_001073291.2:p.Ile1853Arg