Canonical Allele Identifier: CA2530597426

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297778_129297779insT , CM000668.2:g.129297778_129297779insT	GRCh38
NC_000006.11:g.129618923_129618924insT , CM000668.1:g.129618923_129618924insT	GRCh37
NC_000006.10:g.129660616_129660617insT	NCBI36
NG_008678.1:g.419638_419639insT , LRG_409:g.419638_419639insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.2950_2951insT	ENSP00000481744.2:p.Gln984LeufsTer14
ENST00000618192.5:c.3214_3215insT	ENSP00000480802.2:p.Gln1072LeufsTer14
ENST00000421865.3:c.2950_2951insT MANE Select	ENSP00000400365.2:p.Gln984LeufsTer14
ENST00000645154.1:c.465_466insT
ENST00000421865.2:c.2950_2951insT	ENSP00000400365.2:p.Gln984LeufsTer14
ENST00000617695.4:c.2950_2951insT	ENSP00000481744.1:p.Gln984LeufsTer14
ENST00000618192.4:c.2950_2951insT	ENSP00000480802.1:p.Gln984LeufsTer14
NM_000426.3:c.2950_2951insT , LRG_409t1:c.2950_2951insT	NP_000417.2:p.Gln984LeufsTer14
NM_001079823.1:c.2950_2951insT	NP_001073291.1:p.Gln984LeufsTer14
XM_005266981.2:c.3214_3215insT	XP_005267038.1:p.Gln1072LeufsTer14
XM_005266982.2:c.3214_3215insT	XP_005267039.1:p.Gln1072LeufsTer14
XM_011535820.1:c.3214_3215insT	XP_011534122.1:p.Gln1072LeufsTer14
XM_005266981.3:c.3214_3215insT	XP_005267038.1:p.Gln1072LeufsTer14
XM_005266982.3:c.3214_3215insT	XP_005267039.1:p.Gln1072LeufsTer14
XM_011535820.2:c.3214_3215insT	XP_011534122.1:p.Gln1072LeufsTer14
XM_017010851.2:c.3220_3221insT	XP_016866340.1:p.Gln1074LeufsTer14
XM_017010852.1:c.1345_1346insT	XP_016866341.1:p.Gln449LeufsTer14
XM_017010853.1:c.3214_3215insT	XP_016866342.1:p.Gln1072LeufsTer14
NM_000426.4:c.2950_2951insT MANE Select	NP_000417.3:p.Gln984LeufsTer14
NM_001079823.2:c.2950_2951insT	NP_001073291.2:p.Gln984LeufsTer14