Canonical Allele Identifier: CA146918022

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129492078G>A , CM000668.2:g.129492078G>A	GRCh38
NC_000006.11:g.129813223G>A , CM000668.1:g.129813223G>A	GRCh37
NC_000006.10:g.129854916G>A	NCBI36
NG_008678.1:g.613938G>A , LRG_409:g.613938G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8075+1G>A MANE Select	NP_000417.3:n.8075+1G>A
ENST00000421865.3:c.8075+1G>A MANE Select	ENSP00000400365.2:n.8075+1G>A
NM_000426.3:c.8075+1G>A , LRG_409t1:c.8075+1G>A	NP_000417.2:n.8075+1G>A
NM_001079823.1:c.8063+1G>A	NP_001073291.1:n.8063+1G>A
NM_001079823.2:c.8063+1G>A	NP_001073291.2:n.8063+1G>A
ENST00000421865.2:c.8075+1G>A	ENSP00000400365.2:n.8075+1G>A
ENST00000494137.1:n.237+1G>A
ENST00000494137.2:c.140+1G>A	ENSP00000510626.1:n.140+1G>A
ENST00000498257.5:n.388+1G>A
ENST00000498257.6:c.140+1G>A	ENSP00000510533.1:n.140+1G>A
ENST00000617695.4:c.8063+1G>A	ENSP00000481744.1:n.8063+1G>A
ENST00000617695.5:c.8063+1G>A	ENSP00000481744.2:n.8063+1G>A
ENST00000618192.4:c.8072+1G>A	ENSP00000480802.1:n.8072+1G>A
ENST00000618192.5:c.8339+1G>A	ENSP00000480802.2:n.8339+1G>A
ENST00000688198.1:n.1053+1G>A
ENST00000688799.1:c.140+1G>A	ENSP00000508458.1:n.140+1G>A
ENST00000690858.1:n.1069+1G>A
XM_005266981.2:c.8339+1G>A	XP_005267038.1:n.8339+1G>A
XM_005266981.3:c.8339+1G>A	XP_005267038.1:n.8339+1G>A
XM_005266982.2:c.8327+1G>A	XP_005267039.1:n.8327+1G>A
XM_005266982.3:c.8327+1G>A	XP_005267039.1:n.8327+1G>A
XM_011535820.1:c.8333+1G>A	XP_011534122.1:n.8333+1G>A
XM_011535820.2:c.8333+1G>A	XP_011534122.1:n.8333+1G>A
XM_017010851.2:c.8345+1G>A	XP_016866340.1:n.8345+1G>A
XM_017010852.1:c.6470+1G>A	XP_016866341.1:n.6470+1G>A