Canonical Allele Identifier: CA365619424
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1208787
ClinVar RCV Id: RCV001577228
dbSNP Id: rs1783185621

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129460309A>G , CM000668.2:g.129460309A>G GRCh38
NC_000006.11:g.129781454A>G , CM000668.1:g.129781454A>G GRCh37
NC_000006.10:g.129823147A>G NCBI36
NG_008678.1:g.582169A>G , LRG_409:g.582169A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.6977A>G ENSP00000481744.2:p.Lys2326Arg
ENST00000618192.5:c.7241A>G ENSP00000480802.2:p.Lys2414Arg
ENST00000684985.1:n.608A>G
ENST00000688150.1:n.316A>G
ENST00000421865.3:c.6977A>G MANE Select ENSP00000400365.2:p.Lys2326Arg
ENST00000421865.2:c.6977A>G ENSP00000400365.2:p.Lys2326Arg
ENST00000617695.4:c.6977A>G ENSP00000481744.1:p.Lys2326Arg
ENST00000618192.4:c.6974A>G ENSP00000480802.1:p.Lys2325Arg
NM_000426.3:c.6977A>G , LRG_409t1:c.6977A>G NP_000417.2:p.Lys2326Arg
NM_001079823.1:c.6977A>G NP_001073291.1:p.Lys2326Arg
XM_005266981.2:c.7241A>G XP_005267038.1:p.Lys2414Arg
XM_005266982.2:c.7241A>G XP_005267039.1:p.Lys2414Arg
XM_011535820.1:c.7235A>G XP_011534122.1:p.Lys2412Arg
XM_005266981.3:c.7241A>G XP_005267038.1:p.Lys2414Arg
XM_005266982.3:c.7241A>G XP_005267039.1:p.Lys2414Arg
XM_011535820.2:c.7235A>G XP_011534122.1:p.Lys2412Arg
XM_017010851.2:c.7247A>G XP_016866340.1:p.Lys2416Arg
XM_017010852.1:c.5372A>G XP_016866341.1:p.Lys1791Arg
NM_000426.4:c.6977A>G MANE Select NP_000417.3:p.Lys2326Arg
NM_001079823.2:c.6977A>G NP_001073291.2:p.Lys2326Arg