Canonical Allele Identifier: CA3994916
Gene: LAMA2 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129507546G>A , CM000668.2:g.129507546G>A GRCh38
NC_000006.11:g.129828691G>A , CM000668.1:g.129828691G>A GRCh37
NC_000006.10:g.129870384G>A NCBI36
NG_008678.1:g.629406G>A , LRG_409:g.629406G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.826G>A ENSP00000510626.1:p.Asp276Asn
ENST00000498257.6:c.826G>A ENSP00000510533.1:p.Asp276Asn
ENST00000617695.5:c.8749G>A ENSP00000481744.2:p.Asp2917Asn
ENST00000618192.5:c.9025G>A ENSP00000480802.2:p.Asp3009Asn
ENST00000688198.1:n.1739G>A
ENST00000688799.1:c.826G>A ENSP00000508458.1:p.Asp276Asn
ENST00000690858.1:n.1755G>A
ENST00000693461.1:n.1098G>A
ENST00000421865.3:c.8761G>A MANE Select ENSP00000400365.2:p.Asp2921Asn
ENST00000421865.2:c.8761G>A ENSP00000400365.2:p.Asp2921Asn
ENST00000617695.4:c.8749G>A ENSP00000481744.1:p.Asp2917Asn
ENST00000618192.4:c.8758G>A ENSP00000480802.1:p.Asp2920Asn
NM_000426.3:c.8761G>A , LRG_409t1:c.8761G>A NP_000417.2:p.Asp2921Asn
NM_001079823.1:c.8749G>A NP_001073291.1:p.Asp2917Asn
XM_005266981.2:c.9025G>A XP_005267038.1:p.Asp3009Asn
XM_005266982.2:c.9013G>A XP_005267039.1:p.Asp3005Asn
XM_011535820.1:c.9019G>A XP_011534122.1:p.Asp3007Asn
XR_942984.1:n.1461-4755C>T
XR_942985.1:n.1325-4755C>T
XM_005266981.3:c.9025G>A XP_005267038.1:p.Asp3009Asn
XM_005266982.3:c.9013G>A XP_005267039.1:p.Asp3005Asn
XM_011535820.2:c.9019G>A XP_011534122.1:p.Asp3007Asn
XM_017010851.2:c.9031G>A XP_016866340.1:p.Asp3011Asn
XM_017010852.1:c.7156G>A XP_016866341.1:p.Asp2386Asn
XR_001743859.1:n.3901-4755C>T
XR_001743860.1:n.1180-4755C>T
XR_001743861.1:n.1347-4755C>T
XR_001743863.1:n.883-4755C>T
XR_002956395.1:n.9132-4755C>T
XR_002956396.1:n.3127-4755C>T
NM_000426.4:c.8761G>A MANE Select NP_000417.3:p.Asp2921Asn
NM_001079823.2:c.8749G>A NP_001073291.2:p.Asp2917Asn