Canonical Allele Identifier: CA3993759

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129383222G>A , CM000668.2:g.129383222G>A	GRCh38
NC_000006.11:g.129704367G>A , CM000668.1:g.129704367G>A	GRCh37
NC_000006.10:g.129746060G>A	NCBI36
NG_008678.1:g.505082G>A , LRG_409:g.505082G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.5060G>A MANE Select	NP_000417.3:p.Arg1687Gln
ENST00000421865.3:c.5060G>A MANE Select	ENSP00000400365.2:p.Arg1687Gln
NM_000426.3:c.5060G>A , LRG_409t1:c.5060G>A	NP_000417.2:p.Arg1687Gln
NM_001079823.1:c.5060G>A	NP_001073291.1:p.Arg1687Gln
NM_001079823.2:c.5060G>A	NP_001073291.2:p.Arg1687Gln
ENST00000421865.2:c.5060G>A	ENSP00000400365.2:p.Arg1687Gln
ENST00000617695.4:c.5060G>A	ENSP00000481744.1:p.Arg1687Gln
ENST00000617695.5:c.5060G>A	ENSP00000481744.2:p.Arg1687Gln
ENST00000618192.4:c.5060G>A	ENSP00000480802.1:p.Arg1687Gln
ENST00000618192.5:c.5324G>A	ENSP00000480802.2:p.Arg1775Gln
ENST00000687590.1:n.1480G>A
XM_005266981.2:c.5324G>A	XP_005267038.1:p.Arg1775Gln
XM_005266981.3:c.5324G>A	XP_005267038.1:p.Arg1775Gln
XM_005266982.2:c.5324G>A	XP_005267039.1:p.Arg1775Gln
XM_005266982.3:c.5324G>A	XP_005267039.1:p.Arg1775Gln
XM_011535820.1:c.5324G>A	XP_011534122.1:p.Arg1775Gln
XM_011535820.2:c.5324G>A	XP_011534122.1:p.Arg1775Gln
XM_017010851.2:c.5330G>A	XP_016866340.1:p.Arg1777Gln
XM_017010852.1:c.3455G>A	XP_016866341.1:p.Arg1152Gln
XM_017010853.1:c.5324G>A	XP_016866342.1:p.Arg1775Gln