Canonical Allele Identifier: CA3993708

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129369910C>T , CM000668.2:g.129369910C>T	GRCh38
NC_000006.11:g.129691055C>T , CM000668.1:g.129691055C>T	GRCh37
NC_000006.10:g.129732748C>T	NCBI36
NG_008678.1:g.491770C>T , LRG_409:g.491770C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.4879C>T MANE Select	NP_000417.3:p.Arg1627Trp
ENST00000421865.3:c.4879C>T MANE Select	ENSP00000400365.2:p.Arg1627Trp
NM_000426.3:c.4879C>T , LRG_409t1:c.4879C>T	NP_000417.2:p.Arg1627Trp
NM_001079823.1:c.4879C>T	NP_001073291.1:p.Arg1627Trp
NM_001079823.2:c.4879C>T	NP_001073291.2:p.Arg1627Trp
ENST00000421865.2:c.4879C>T	ENSP00000400365.2:p.Arg1627Trp
ENST00000617695.4:c.4879C>T	ENSP00000481744.1:p.Arg1627Trp
ENST00000617695.5:c.4879C>T	ENSP00000481744.2:p.Arg1627Trp
ENST00000618192.4:c.4879C>T	ENSP00000480802.1:p.Arg1627Trp
ENST00000618192.5:c.5143C>T	ENSP00000480802.2:p.Arg1715Trp
ENST00000687590.1:n.1299C>T
XM_005266981.2:c.5143C>T	XP_005267038.1:p.Arg1715Trp
XM_005266981.3:c.5143C>T	XP_005267038.1:p.Arg1715Trp
XM_005266982.2:c.5143C>T	XP_005267039.1:p.Arg1715Trp
XM_005266982.3:c.5143C>T	XP_005267039.1:p.Arg1715Trp
XM_011535820.1:c.5143C>T	XP_011534122.1:p.Arg1715Trp
XM_011535820.2:c.5143C>T	XP_011534122.1:p.Arg1715Trp
XM_017010851.2:c.5149C>T	XP_016866340.1:p.Arg1717Trp
XM_017010852.1:c.3274C>T	XP_016866341.1:p.Arg1092Trp
XM_017010853.1:c.5143C>T	XP_016866342.1:p.Arg1715Trp