Canonical Allele Identifier: CA3994926
Gene: LAMA2 HGNC NCBI
ClinVar Variation:
COSMIC:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129507621G>A , CM000668.2:g.129507621G>A GRCh38
NC_000006.11:g.129828766G>A , CM000668.1:g.129828766G>A GRCh37
NC_000006.10:g.129870459G>A NCBI36
NG_008678.1:g.629481G>A , LRG_409:g.629481G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.901G>A ENSP00000510626.1:p.Gly301Arg
ENST00000498257.6:c.901G>A ENSP00000510533.1:p.Gly301Arg
ENST00000617695.5:c.8824G>A ENSP00000481744.2:p.Gly2942Arg
ENST00000618192.5:c.9100G>A ENSP00000480802.2:p.Gly3034Arg
ENST00000688198.1:n.1814G>A
ENST00000688799.1:c.901G>A ENSP00000508458.1:p.Gly301Arg
ENST00000690858.1:n.1830G>A
ENST00000693461.1:n.1173G>A
ENST00000421865.3:c.8836G>A MANE Select ENSP00000400365.2:p.Gly2946Arg
ENST00000421865.2:c.8836G>A ENSP00000400365.2:p.Gly2946Arg
ENST00000617695.4:c.8824G>A ENSP00000481744.1:p.Gly2942Arg
ENST00000618192.4:c.8833G>A ENSP00000480802.1:p.Gly2945Arg
NM_000426.3:c.8836G>A , LRG_409t1:c.8836G>A NP_000417.2:p.Gly2946Arg
NM_001079823.1:c.8824G>A NP_001073291.1:p.Gly2942Arg
XM_005266981.2:c.9100G>A XP_005267038.1:p.Gly3034Arg
XM_005266982.2:c.9088G>A XP_005267039.1:p.Gly3030Arg
XM_011535820.1:c.9094G>A XP_011534122.1:p.Gly3032Arg
XR_942984.1:n.1461-4830C>T
XR_942985.1:n.1325-4830C>T
XM_005266981.3:c.9100G>A XP_005267038.1:p.Gly3034Arg
XM_005266982.3:c.9088G>A XP_005267039.1:p.Gly3030Arg
XM_011535820.2:c.9094G>A XP_011534122.1:p.Gly3032Arg
XM_017010851.2:c.9106G>A XP_016866340.1:p.Gly3036Arg
XM_017010852.1:c.7231G>A XP_016866341.1:p.Gly2411Arg
XR_001743859.1:n.3901-4830C>T
XR_001743860.1:n.1180-4830C>T
XR_001743861.1:n.1347-4830C>T
XR_001743863.1:n.883-4830C>T
XR_002956395.1:n.9132-4830C>T
XR_002956396.1:n.3127-4830C>T
NM_000426.4:c.8836G>A MANE Select NP_000417.3:p.Gly2946Arg
NM_001079823.2:c.8824G>A NP_001073291.2:p.Gly2942Arg