Canonical Allele Identifier: CA3994785

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129502675A>G , CM000668.2:g.129502675A>G	GRCh38
NC_000006.11:g.129823820A>G , CM000668.1:g.129823820A>G	GRCh37
NC_000006.10:g.129865513A>G	NCBI36
NG_008678.1:g.624535A>G , LRG_409:g.624535A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8261A>G MANE Select	NP_000417.3:p.Glu2754Gly
ENST00000421865.3:c.8261A>G MANE Select	ENSP00000400365.2:p.Glu2754Gly
NM_000426.3:c.8261A>G , LRG_409t1:c.8261A>G	NP_000417.2:p.Glu2754Gly
NM_001079823.1:c.8249A>G	NP_001073291.1:p.Glu2750Gly
NM_001079823.2:c.8249A>G	NP_001073291.2:p.Glu2750Gly
ENST00000421865.2:c.8261A>G	ENSP00000400365.2:p.Glu2754Gly
ENST00000494137.2:c.326A>G	ENSP00000510626.1:p.Glu109Gly
ENST00000498257.6:c.326A>G	ENSP00000510533.1:p.Glu109Gly
ENST00000617695.4:c.8249A>G	ENSP00000481744.1:p.Glu2750Gly
ENST00000617695.5:c.8249A>G	ENSP00000481744.2:p.Glu2750Gly
ENST00000618192.4:c.8258A>G	ENSP00000480802.1:p.Glu2753Gly
ENST00000618192.5:c.8525A>G	ENSP00000480802.2:p.Glu2842Gly
ENST00000688198.1:n.1239A>G
ENST00000688799.1:c.326A>G	ENSP00000508458.1:p.Glu109Gly
ENST00000690858.1:n.1255A>G
ENST00000693461.1:n.598A>G
XM_005266981.2:c.8525A>G	XP_005267038.1:p.Glu2842Gly
XM_005266981.3:c.8525A>G	XP_005267038.1:p.Glu2842Gly
XM_005266982.2:c.8513A>G	XP_005267039.1:p.Glu2838Gly
XM_005266982.3:c.8513A>G	XP_005267039.1:p.Glu2838Gly
XM_011535820.1:c.8519A>G	XP_011534122.1:p.Glu2840Gly
XM_011535820.2:c.8519A>G	XP_011534122.1:p.Glu2840Gly
XM_017010851.2:c.8531A>G	XP_016866340.1:p.Glu2844Gly
XM_017010852.1:c.6656A>G	XP_016866341.1:p.Glu2219Gly
XR_001743859.1:n.4017T>C
XR_001743860.1:n.1296T>C
XR_001743861.1:n.1463T>C
XR_001743863.1:n.999T>C
XR_002956395.1:n.9248T>C
XR_002956396.1:n.3243T>C