Canonical Allele Identifier: CA365634959

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505318G>A , CM000668.2:g.129505318G>A	GRCh38
NC_000006.11:g.129826463G>A , CM000668.1:g.129826463G>A	GRCh37
NC_000006.10:g.129868156G>A	NCBI36
NG_008678.1:g.627178G>A , LRG_409:g.627178G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8666G>A MANE Select	NP_000417.3:p.Gly2889Glu
ENST00000421865.3:c.8666G>A MANE Select	ENSP00000400365.2:p.Gly2889Glu
NM_000426.3:c.8666G>A , LRG_409t1:c.8666G>A	NP_000417.2:p.Gly2889Glu
NM_001079823.1:c.8654G>A	NP_001073291.1:p.Gly2885Glu
NM_001079823.2:c.8654G>A	NP_001073291.2:p.Gly2885Glu
ENST00000421865.2:c.8666G>A	ENSP00000400365.2:p.Gly2889Glu
ENST00000494137.2:c.731G>A	ENSP00000510626.1:p.Gly244Glu
ENST00000498257.6:c.731G>A	ENSP00000510533.1:p.Gly244Glu
ENST00000617695.4:c.8654G>A	ENSP00000481744.1:p.Gly2885Glu
ENST00000617695.5:c.8654G>A	ENSP00000481744.2:p.Gly2885Glu
ENST00000618192.4:c.8663G>A	ENSP00000480802.1:p.Gly2888Glu
ENST00000618192.5:c.8930G>A	ENSP00000480802.2:p.Gly2977Glu
ENST00000688198.1:n.1644G>A
ENST00000688799.1:c.731G>A	ENSP00000508458.1:p.Gly244Glu
ENST00000690858.1:n.1660G>A
ENST00000693461.1:n.1003G>A
XM_005266981.2:c.8930G>A	XP_005267038.1:p.Gly2977Glu
XM_005266981.3:c.8930G>A	XP_005267038.1:p.Gly2977Glu
XM_005266982.2:c.8918G>A	XP_005267039.1:p.Gly2973Glu
XM_005266982.3:c.8918G>A	XP_005267039.1:p.Gly2973Glu
XM_011535820.1:c.8924G>A	XP_011534122.1:p.Gly2975Glu
XM_011535820.2:c.8924G>A	XP_011534122.1:p.Gly2975Glu
XM_017010851.2:c.8936G>A	XP_016866340.1:p.Gly2979Glu
XM_017010852.1:c.7061G>A	XP_016866341.1:p.Gly2354Glu
XR_001743859.1:n.3901-2527C>T
XR_001743860.1:n.1180-2527C>T
XR_001743861.1:n.1347-2527C>T
XR_001743863.1:n.883-2527C>T
XR_002956395.1:n.9132-2527C>T
XR_002956396.1:n.3127-2527C>T
XR_942984.1:n.1461-2527C>T
XR_942985.1:n.1325-2527C>T