Canonical Allele Identifier: CA365616745

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129453106T>G , CM000668.2:g.129453106T>G	GRCh38
NC_000006.11:g.129774251T>G , CM000668.1:g.129774251T>G	GRCh37
NC_000006.10:g.129815944T>G	NCBI36
NG_008678.1:g.574966T>G , LRG_409:g.574966T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.6548T>G MANE Select	NP_000417.3:p.Leu2183Arg
ENST00000421865.3:c.6548T>G MANE Select	ENSP00000400365.2:p.Leu2183Arg
NM_000426.3:c.6548T>G , LRG_409t1:c.6548T>G	NP_000417.2:p.Leu2183Arg
NM_001079823.1:c.6548T>G	NP_001073291.1:p.Leu2183Arg
NM_001079823.2:c.6548T>G	NP_001073291.2:p.Leu2183Arg
ENST00000421865.2:c.6548T>G	ENSP00000400365.2:p.Leu2183Arg
ENST00000617695.4:c.6548T>G	ENSP00000481744.1:p.Leu2183Arg
ENST00000617695.5:c.6548T>G	ENSP00000481744.2:p.Leu2183Arg
ENST00000618192.4:c.6545T>G	ENSP00000480802.1:p.Leu2182Arg
ENST00000618192.5:c.6812T>G	ENSP00000480802.2:p.Leu2271Arg
ENST00000684985.1:n.179T>G
XM_005266981.2:c.6812T>G	XP_005267038.1:p.Leu2271Arg
XM_005266981.3:c.6812T>G	XP_005267038.1:p.Leu2271Arg
XM_005266982.2:c.6812T>G	XP_005267039.1:p.Leu2271Arg
XM_005266982.3:c.6812T>G	XP_005267039.1:p.Leu2271Arg
XM_011535820.1:c.6806T>G	XP_011534122.1:p.Leu2269Arg
XM_011535820.2:c.6806T>G	XP_011534122.1:p.Leu2269Arg
XM_017010851.2:c.6818T>G	XP_016866340.1:p.Leu2273Arg
XM_017010852.1:c.4943T>G	XP_016866341.1:p.Leu1648Arg