Canonical Allele Identifier: CA3994666

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129486505G>A , CM000668.2:g.129486505G>A	GRCh38
NC_000006.11:g.129807650G>A , CM000668.1:g.129807650G>A	GRCh37
NC_000006.10:g.129849343G>A	NCBI36
NG_008678.1:g.608365G>A , LRG_409:g.608365G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7781G>A MANE Select	NP_000417.3:p.Arg2594His
ENST00000421865.3:c.7781G>A MANE Select	ENSP00000400365.2:p.Arg2594His
NM_000426.3:c.7781G>A , LRG_409t1:c.7781G>A	NP_000417.2:p.Arg2594His
NM_001079823.1:c.7769G>A	NP_001073291.1:p.Arg2590His
NM_001079823.2:c.7769G>A	NP_001073291.2:p.Arg2590His
ENST00000421865.2:c.7781G>A	ENSP00000400365.2:p.Arg2594His
ENST00000617695.4:c.7769G>A	ENSP00000481744.1:p.Arg2590His
ENST00000617695.5:c.7769G>A	ENSP00000481744.2:p.Arg2590His
ENST00000618192.4:c.7778G>A	ENSP00000480802.1:p.Arg2593His
ENST00000618192.5:c.8045G>A	ENSP00000480802.2:p.Arg2682His
ENST00000688198.1:n.759G>A
XM_005266981.2:c.8045G>A	XP_005267038.1:p.Arg2682His
XM_005266981.3:c.8045G>A	XP_005267038.1:p.Arg2682His
XM_005266982.2:c.8033G>A	XP_005267039.1:p.Arg2678His
XM_005266982.3:c.8033G>A	XP_005267039.1:p.Arg2678His
XM_011535820.1:c.8039G>A	XP_011534122.1:p.Arg2680His
XM_011535820.2:c.8039G>A	XP_011534122.1:p.Arg2680His
XM_017010851.2:c.8051G>A	XP_016866340.1:p.Arg2684His
XM_017010852.1:c.6176G>A	XP_016866341.1:p.Arg2059His