Canonical Allele Identifier: CA2695206981

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129297830dup , CM000668.2:g.129297830dup	GRCh38
NC_000006.11:g.129618975dup , CM000668.1:g.129618975dup	GRCh37
NC_000006.10:g.129660668dup	NCBI36
NG_008678.1:g.419690dup , LRG_409:g.419690dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3002dup	ENSP00000481744.2:p.His1001GlnfsTer15
ENST00000618192.5:c.3266dup	ENSP00000480802.2:p.His1089GlnfsTer15
ENST00000421865.3:c.3002dup MANE Select	ENSP00000400365.2:p.His1001GlnfsTer15
ENST00000645154.1:c.517dup
ENST00000421865.2:c.3002dup	ENSP00000400365.2:p.His1001GlnfsTer15
ENST00000617695.4:c.3002dup	ENSP00000481744.1:p.His1001GlnfsTer15
ENST00000618192.4:c.3002dup	ENSP00000480802.1:p.His1001GlnfsTer15
NM_000426.3:c.3002dup , LRG_409t1:c.3002dup	NP_000417.2:p.His1001GlnfsTer15
NM_001079823.1:c.3002dup	NP_001073291.1:p.His1001GlnfsTer15
XM_005266981.2:c.3266dup	XP_005267038.1:p.His1089GlnfsTer15
XM_005266982.2:c.3266dup	XP_005267039.1:p.His1089GlnfsTer15
XM_011535820.1:c.3266dup	XP_011534122.1:p.His1089GlnfsTer15
XM_005266981.3:c.3266dup	XP_005267038.1:p.His1089GlnfsTer15
XM_005266982.3:c.3266dup	XP_005267039.1:p.His1089GlnfsTer15
XM_011535820.2:c.3266dup	XP_011534122.1:p.His1089GlnfsTer15
XM_017010851.2:c.3272dup	XP_016866340.1:p.His1091GlnfsTer15
XM_017010852.1:c.1397dup	XP_016866341.1:p.His466GlnfsTer15
XM_017010853.1:c.3266dup	XP_016866342.1:p.His1089GlnfsTer15
NM_000426.4:c.3002dup MANE Select	NP_000417.3:p.His1001GlnfsTer15
NM_001079823.2:c.3002dup	NP_001073291.2:p.His1001GlnfsTer15