Canonical Allele Identifier: CA295407
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129505342G>A , CM000668.2:g.129505342G>A GRCh38
NC_000006.11:g.129826487G>A , CM000668.1:g.129826487G>A GRCh37
NC_000006.10:g.129868180G>A NCBI36
NG_008678.1:g.627202G>A , LRG_409:g.627202G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.755G>A ENSP00000510626.1:p.Arg252Gln
ENST00000498257.6:c.755G>A ENSP00000510533.1:p.Arg252Gln
ENST00000617695.5:c.8678G>A ENSP00000481744.2:p.Arg2893Gln
ENST00000618192.5:c.8954G>A ENSP00000480802.2:p.Arg2985Gln
ENST00000688198.1:n.1668G>A
ENST00000688799.1:c.755G>A ENSP00000508458.1:p.Arg252Gln
ENST00000690858.1:n.1684G>A
ENST00000693461.1:n.1027G>A
ENST00000421865.3:c.8690G>A MANE Select ENSP00000400365.2:p.Arg2897Gln
ENST00000421865.2:c.8690G>A ENSP00000400365.2:p.Arg2897Gln
ENST00000617695.4:c.8678G>A ENSP00000481744.1:p.Arg2893Gln
ENST00000618192.4:c.8687G>A ENSP00000480802.1:p.Arg2896Gln
NM_000426.3:c.8690G>A , LRG_409t1:c.8690G>A NP_000417.2:p.Arg2897Gln
NM_001079823.1:c.8678G>A NP_001073291.1:p.Arg2893Gln
XM_005266981.2:c.8954G>A XP_005267038.1:p.Arg2985Gln
XM_005266982.2:c.8942G>A XP_005267039.1:p.Arg2981Gln
XM_011535820.1:c.8948G>A XP_011534122.1:p.Arg2983Gln
XR_942984.1:n.1461-2551C>T
XR_942985.1:n.1325-2551C>T
XM_005266981.3:c.8954G>A XP_005267038.1:p.Arg2985Gln
XM_005266982.3:c.8942G>A XP_005267039.1:p.Arg2981Gln
XM_011535820.2:c.8948G>A XP_011534122.1:p.Arg2983Gln
XM_017010851.2:c.8960G>A XP_016866340.1:p.Arg2987Gln
XM_017010852.1:c.7085G>A XP_016866341.1:p.Arg2362Gln
XR_001743859.1:n.3901-2551C>T
XR_001743860.1:n.1180-2551C>T
XR_001743861.1:n.1347-2551C>T
XR_001743863.1:n.883-2551C>T
XR_002956395.1:n.9132-2551C>T
XR_002956396.1:n.3127-2551C>T
NM_000426.4:c.8690G>A MANE Select NP_000417.3:p.Arg2897Gln
NM_001079823.2:c.8678G>A NP_001073291.2:p.Arg2893Gln