Canonical Allele Identifier: CA2573140446
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1546482
ClinVar RCV Id: RCV002170824
dbSNP Id: rs2114276794

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129250223T>G , CM000668.2:g.129250223T>G GRCh38
NC_000006.11:g.129571368T>G , CM000668.1:g.129571368T>G GRCh37
NC_000006.10:g.129613061T>G NCBI36
NG_008678.1:g.372083T>G , LRG_409:g.372083T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.1884+10T>G ENSP00000481744.2:n.1884+10T>G
ENST00000618192.5:c.1884+10T>G ENSP00000480802.2:n.1884+10T>G
ENST00000421865.3:c.1884+10T>G MANE Select ENSP00000400365.2:n.1884+10T>G
ENST00000421865.2:c.1884+10T>G ENSP00000400365.2:n.1884+10T>G
ENST00000617695.4:c.1884+10T>G ENSP00000481744.1:n.1884+10T>G
ENST00000618192.4:c.1884+10T>G ENSP00000480802.1:n.1884+10T>G
NM_000426.3:c.1884+10T>G , LRG_409t1:c.1884+10T>G NP_000417.2:n.1884+10T>G
NM_001079823.1:c.1884+10T>G NP_001073291.1:n.1884+10T>G
XM_005266981.2:c.1884+10T>G XP_005267038.1:n.1884+10T>G
XM_005266982.2:c.1884+10T>G XP_005267039.1:n.1884+10T>G
XM_011535820.1:c.1884+10T>G XP_011534122.1:n.1884+10T>G
XM_005266981.3:c.1884+10T>G XP_005267038.1:n.1884+10T>G
XM_005266982.3:c.1884+10T>G XP_005267039.1:n.1884+10T>G
XM_011535820.2:c.1884+10T>G XP_011534122.1:n.1884+10T>G
XM_017010851.2:c.1890+10T>G XP_016866340.1:n.1890+10T>G
XM_017010852.1:c.15+10T>G XP_016866341.1:n.15+10T>G
XM_017010853.1:c.1884+10T>G XP_016866342.1:n.1884+10T>G
NM_000426.4:c.1884+10T>G MANE Select NP_000417.3:n.1884+10T>G
NM_001079823.2:c.1884+10T>G NP_001073291.2:n.1884+10T>G