Canonical Allele Identifier: CA3992250
Gene: LAMA2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.129050042G>A
GRCh37 chr6:g.129371187G>A
gnomAD v2:
6:129371187 G / A
gnomAD v3:
6:129050042 G / A
gnomAD v4:
chr6-129050042-G-A
Joint Max Group AF 0.00002863 (SAS)
Genomes Max Group AF 0.00001972 (NFE)
Exomes Max Group AF 0.00002995 (SAS)
ClinVar RCV:
RCV000292575
RCV000955640
ClinVar Variation:
355242
dbSNP:
201402165
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129050042G>A , CM000668.2:g.129050042G>A GRCh38
NC_000006.11:g.129371187G>A , CM000668.1:g.129371187G>A GRCh37
NC_000006.10:g.129412880G>A NCBI36
NG_008678.1:g.171902G>A , LRG_409:g.171902G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.237G>A ENSP00000481744.2:p.Arg79=
ENST00000618192.5:c.237G>A ENSP00000480802.2:p.Arg79=
ENST00000686577.1:n.303G>A
ENST00000686599.1:n.342G>A
ENST00000689044.1:n.127G>A
ENST00000421865.3:c.237G>A MANE Select ENSP00000400365.2:p.Arg79=
ENST00000421865.2:c.237G>A ENSP00000400365.2:p.Arg79=
ENST00000617695.4:c.237G>A ENSP00000481744.1:p.Arg79=
ENST00000618192.4:c.237G>A ENSP00000480802.1:p.Arg79=
NM_000426.3:c.237G>A , LRG_409t1:c.237G>A NP_000417.2:p.Arg79=
NM_001079823.1:c.237G>A NP_001073291.1:p.Arg79=
XM_005266981.2:c.237G>A XP_005267038.1:p.Arg79=
XM_005266982.2:c.237G>A XP_005267039.1:p.Arg79=
XM_011535820.1:c.237G>A XP_011534122.1:p.Arg79=
XM_005266981.3:c.237G>A XP_005267038.1:p.Arg79=
XM_005266982.3:c.237G>A XP_005267039.1:p.Arg79=
XM_011535820.2:c.237G>A XP_011534122.1:p.Arg79=
XM_017010851.2:c.243G>A XP_016866340.1:p.Arg81=
XM_017010853.1:c.237G>A XP_016866342.1:p.Arg79=
NM_000426.4:c.237G>A MANE Select NP_000417.3:p.Arg79=
NM_001079823.2:c.237G>A NP_001073291.2:p.Arg79=
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