Canonical Allele Identifier: CA3995105
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129516318G>A , CM000668.2:g.129516318G>A GRCh38
NC_000006.11:g.129837463G>A , CM000668.1:g.129837463G>A GRCh37
NC_000006.10:g.129879156G>A NCBI36
NG_008678.1:g.638178G>A , LRG_409:g.638178G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1405G>A ENSP00000510626.1:p.Val469Ile
ENST00000498257.6:c.1405G>A ENSP00000510533.1:p.Val469Ile
ENST00000617695.5:c.9328G>A ENSP00000481744.2:p.Val3110Ile
ENST00000618192.5:c.9604G>A ENSP00000480802.2:p.Val3202Ile
ENST00000688198.1:n.2318G>A
ENST00000688799.1:c.1405G>A ENSP00000508458.1:p.Val469Ile
ENST00000690858.1:n.4213G>A
ENST00000693461.1:n.1677G>A
ENST00000421865.3:c.9340G>A MANE Select ENSP00000400365.2:p.Val3114Ile
ENST00000421865.2:c.9340G>A ENSP00000400365.2:p.Val3114Ile
ENST00000617695.4:c.9328G>A ENSP00000481744.1:p.Val3110Ile
ENST00000618192.4:c.9337G>A ENSP00000480802.1:p.Val3113Ile
NM_000426.3:c.9340G>A , LRG_409t1:c.9340G>A NP_000417.2:p.Val3114Ile
NM_001079823.1:c.9328G>A NP_001073291.1:p.Val3110Ile
XM_005266981.2:c.9604G>A XP_005267038.1:p.Val3202Ile
XM_005266982.2:c.9592G>A XP_005267039.1:p.Val3198Ile
XM_011535820.1:c.9598G>A XP_011534122.1:p.Val3200Ile
XR_942984.1:n.1460+6159C>T
XR_942985.1:n.1324+6159C>T
XM_005266981.3:c.9604G>A XP_005267038.1:p.Val3202Ile
XM_005266982.3:c.9592G>A XP_005267039.1:p.Val3198Ile
XM_011535820.2:c.9598G>A XP_011534122.1:p.Val3200Ile
XM_017010851.2:c.9610G>A XP_016866340.1:p.Val3204Ile
XM_017010852.1:c.7735G>A XP_016866341.1:p.Val2579Ile
XR_001743859.1:n.3900+6159C>T
XR_001743860.1:n.1179+6159C>T
XR_001743861.1:n.1346+6159C>T
XR_001743863.1:n.883-13527C>T
XR_002956395.1:n.9131+6159C>T
XR_002956396.1:n.3126+6159C>T
NM_000426.4:c.9340G>A MANE Select NP_000417.3:p.Val3114Ile
NM_001079823.2:c.9328G>A NP_001073291.2:p.Val3110Ile