Canonical Allele Identifier: CA3994985
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129512482A>G , CM000668.2:g.129512482A>G GRCh38
NC_000006.11:g.129833627A>G , CM000668.1:g.129833627A>G GRCh37
NC_000006.10:g.129875320A>G NCBI36
NG_008678.1:g.634342A>G , LRG_409:g.634342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.1042A>G ENSP00000510626.1:p.Ile348Val
ENST00000498257.6:c.1042A>G ENSP00000510533.1:p.Ile348Val
ENST00000617695.5:c.8965A>G ENSP00000481744.2:p.Ile2989Val
ENST00000618192.5:c.9241A>G ENSP00000480802.2:p.Ile3081Val
ENST00000688198.1:n.1955A>G
ENST00000688799.1:c.1042A>G ENSP00000508458.1:p.Ile348Val
ENST00000690858.1:n.1971A>G
ENST00000693461.1:n.1314A>G
ENST00000421865.3:c.8977A>G MANE Select ENSP00000400365.2:p.Ile2993Val
ENST00000421865.2:c.8977A>G ENSP00000400365.2:p.Ile2993Val
ENST00000617695.4:c.8965A>G ENSP00000481744.1:p.Ile2989Val
ENST00000618192.4:c.8974A>G ENSP00000480802.1:p.Ile2992Val
NM_000426.3:c.8977A>G , LRG_409t1:c.8977A>G NP_000417.2:p.Ile2993Val
NM_001079823.1:c.8965A>G NP_001073291.1:p.Ile2989Val
XM_005266981.2:c.9241A>G XP_005267038.1:p.Ile3081Val
XM_005266982.2:c.9229A>G XP_005267039.1:p.Ile3077Val
XM_011535820.1:c.9235A>G XP_011534122.1:p.Ile3079Val
XR_942984.1:n.1461-9691T>C
XR_942985.1:n.1325-9691T>C
XM_005266981.3:c.9241A>G XP_005267038.1:p.Ile3081Val
XM_005266982.3:c.9229A>G XP_005267039.1:p.Ile3077Val
XM_011535820.2:c.9235A>G XP_011534122.1:p.Ile3079Val
XM_017010851.2:c.9247A>G XP_016866340.1:p.Ile3083Val
XM_017010852.1:c.7372A>G XP_016866341.1:p.Ile2458Val
XR_001743859.1:n.3901-9691T>C
XR_001743860.1:n.1180-9691T>C
XR_001743861.1:n.1347-9691T>C
XR_001743863.1:n.883-9691T>C
XR_002956395.1:n.9132-9691T>C
XR_002956396.1:n.3127-9691T>C
NM_000426.4:c.8977A>G MANE Select NP_000417.3:p.Ile2993Val
NM_001079823.2:c.8965A>G NP_001073291.2:p.Ile2989Val