Canonical Allele Identifier: CA3993481
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129328306G>A , CM000668.2:g.129328306G>A GRCh38
NC_000006.11:g.129649451G>A , CM000668.1:g.129649451G>A GRCh37
NC_000006.10:g.129691144G>A NCBI36
NG_008678.1:g.450166G>A , LRG_409:g.450166G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.4205G>A ENSP00000481744.2:p.Arg1402His
ENST00000618192.5:c.4469G>A ENSP00000480802.2:p.Arg1490His
ENST00000421865.3:c.4205G>A MANE Select ENSP00000400365.2:p.Arg1402His
ENST00000421865.2:c.4205G>A ENSP00000400365.2:p.Arg1402His
ENST00000617695.4:c.4205G>A ENSP00000481744.1:p.Arg1402His
ENST00000618192.4:c.4205G>A ENSP00000480802.1:p.Arg1402His
NM_000426.3:c.4205G>A , LRG_409t1:c.4205G>A NP_000417.2:p.Arg1402His
NM_001079823.1:c.4205G>A NP_001073291.1:p.Arg1402His
XM_005266981.2:c.4469G>A XP_005267038.1:p.Arg1490His
XM_005266982.2:c.4469G>A XP_005267039.1:p.Arg1490His
XM_011535820.1:c.4469G>A XP_011534122.1:p.Arg1490His
XM_005266981.3:c.4469G>A XP_005267038.1:p.Arg1490His
XM_005266982.3:c.4469G>A XP_005267039.1:p.Arg1490His
XM_011535820.2:c.4469G>A XP_011534122.1:p.Arg1490His
XM_017010851.2:c.4475G>A XP_016866340.1:p.Arg1492His
XM_017010852.1:c.2600G>A XP_016866341.1:p.Arg867His
XM_017010853.1:c.4469G>A XP_016866342.1:p.Arg1490His
NM_000426.4:c.4205G>A MANE Select NP_000417.3:p.Arg1402His
NM_001079823.2:c.4205G>A NP_001073291.2:p.Arg1402His