Canonical Allele Identifier: CA3994825
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129503121A>C , CM000668.2:g.129503121A>C GRCh38
NC_000006.11:g.129824266A>C , CM000668.1:g.129824266A>C GRCh37
NC_000006.10:g.129865959A>C NCBI36
NG_008678.1:g.624981A>C , LRG_409:g.624981A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.453A>C ENSP00000510626.1:p.Glu151Asp
ENST00000498257.6:c.453A>C ENSP00000510533.1:p.Glu151Asp
ENST00000617695.5:c.8376A>C ENSP00000481744.2:p.Glu2792Asp
ENST00000618192.5:c.8652A>C ENSP00000480802.2:p.Glu2884Asp
ENST00000688198.1:n.1366A>C
ENST00000688799.1:c.453A>C ENSP00000508458.1:p.Glu151Asp
ENST00000690858.1:n.1382A>C
ENST00000693461.1:n.725A>C
ENST00000421865.3:c.8388A>C MANE Select ENSP00000400365.2:p.Glu2796Asp
ENST00000421865.2:c.8388A>C ENSP00000400365.2:p.Glu2796Asp
ENST00000617695.4:c.8376A>C ENSP00000481744.1:p.Glu2792Asp
ENST00000618192.4:c.8385A>C ENSP00000480802.1:p.Glu2795Asp
NM_000426.3:c.8388A>C , LRG_409t1:c.8388A>C NP_000417.2:p.Glu2796Asp
NM_001079823.1:c.8376A>C NP_001073291.1:p.Glu2792Asp
XM_005266981.2:c.8652A>C XP_005267038.1:p.Glu2884Asp
XM_005266982.2:c.8640A>C XP_005267039.1:p.Glu2880Asp
XM_011535820.1:c.8646A>C XP_011534122.1:p.Glu2882Asp
XR_942984.1:n.1461-330T>G
XR_942985.1:n.1325-330T>G
XM_005266981.3:c.8652A>C XP_005267038.1:p.Glu2884Asp
XM_005266982.3:c.8640A>C XP_005267039.1:p.Glu2880Asp
XM_011535820.2:c.8646A>C XP_011534122.1:p.Glu2882Asp
XM_017010851.2:c.8658A>C XP_016866340.1:p.Glu2886Asp
XM_017010852.1:c.6783A>C XP_016866341.1:p.Glu2261Asp
XR_001743859.1:n.3901-330T>G
XR_001743860.1:n.1180-330T>G
XR_001743861.1:n.1347-330T>G
XR_001743863.1:n.883-330T>G
XR_002956395.1:n.9132-330T>G
XR_002956396.1:n.3127-330T>G
NM_000426.4:c.8388A>C MANE Select NP_000417.3:p.Glu2796Asp
NM_001079823.2:c.8376A>C NP_001073291.2:p.Glu2792Asp