Canonical Allele Identifier: CA3994316

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129454180G>A , CM000668.2:g.129454180G>A	GRCh38
NC_000006.11:g.129775325G>A , CM000668.1:g.129775325G>A	GRCh37
NC_000006.10:g.129817018G>A	NCBI36
NG_008678.1:g.576040G>A , LRG_409:g.576040G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.6599G>A MANE Select	NP_000417.3:p.Arg2200His
ENST00000421865.3:c.6599G>A MANE Select	ENSP00000400365.2:p.Arg2200His
NM_000426.3:c.6599G>A , LRG_409t1:c.6599G>A	NP_000417.2:p.Arg2200His
NM_001079823.1:c.6599G>A	NP_001073291.1:p.Arg2200His
NM_001079823.2:c.6599G>A	NP_001073291.2:p.Arg2200His
ENST00000421865.2:c.6599G>A	ENSP00000400365.2:p.Arg2200His
ENST00000617695.4:c.6599G>A	ENSP00000481744.1:p.Arg2200His
ENST00000617695.5:c.6599G>A	ENSP00000481744.2:p.Arg2200His
ENST00000618192.4:c.6596G>A	ENSP00000480802.1:p.Arg2199His
ENST00000618192.5:c.6863G>A	ENSP00000480802.2:p.Arg2288His
ENST00000684985.1:n.230G>A
XM_005266981.2:c.6863G>A	XP_005267038.1:p.Arg2288His
XM_005266981.3:c.6863G>A	XP_005267038.1:p.Arg2288His
XM_005266982.2:c.6863G>A	XP_005267039.1:p.Arg2288His
XM_005266982.3:c.6863G>A	XP_005267039.1:p.Arg2288His
XM_011535820.1:c.6857G>A	XP_011534122.1:p.Arg2286His
XM_011535820.2:c.6857G>A	XP_011534122.1:p.Arg2286His
XM_017010851.2:c.6869G>A	XP_016866340.1:p.Arg2290His
XM_017010852.1:c.4994G>A	XP_016866341.1:p.Arg1665His