Canonical Allele Identifier: CA3994712

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129491980C>A , CM000668.2:g.129491980C>A	GRCh38
NC_000006.11:g.129813125C>A , CM000668.1:g.129813125C>A	GRCh37
NC_000006.10:g.129854818C>A	NCBI36
NG_008678.1:g.613840C>A , LRG_409:g.613840C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.7978C>A MANE Select	NP_000417.3:p.Leu2660Ile
ENST00000421865.3:c.7978C>A MANE Select	ENSP00000400365.2:p.Leu2660Ile
NM_000426.3:c.7978C>A , LRG_409t1:c.7978C>A	NP_000417.2:p.Leu2660Ile
NM_001079823.1:c.7966C>A	NP_001073291.1:p.Leu2656Ile
NM_001079823.2:c.7966C>A	NP_001073291.2:p.Leu2656Ile
ENST00000421865.2:c.7978C>A	ENSP00000400365.2:p.Leu2660Ile
ENST00000494137.1:n.140C>A
ENST00000494137.2:c.43C>A	ENSP00000510626.1:p.Leu15Ile
ENST00000498257.5:n.291C>A
ENST00000498257.6:c.43C>A	ENSP00000510533.1:p.Leu15Ile
ENST00000617695.4:c.7966C>A	ENSP00000481744.1:p.Leu2656Ile
ENST00000617695.5:c.7966C>A	ENSP00000481744.2:p.Leu2656Ile
ENST00000618192.4:c.7975C>A	ENSP00000480802.1:p.Leu2659Ile
ENST00000618192.5:c.8242C>A	ENSP00000480802.2:p.Leu2748Ile
ENST00000688198.1:n.956C>A
ENST00000688799.1:c.43C>A	ENSP00000508458.1:p.Leu15Ile
ENST00000690858.1:n.972C>A
XM_005266981.2:c.8242C>A	XP_005267038.1:p.Leu2748Ile
XM_005266981.3:c.8242C>A	XP_005267038.1:p.Leu2748Ile
XM_005266982.2:c.8230C>A	XP_005267039.1:p.Leu2744Ile
XM_005266982.3:c.8230C>A	XP_005267039.1:p.Leu2744Ile
XM_011535820.1:c.8236C>A	XP_011534122.1:p.Leu2746Ile
XM_011535820.2:c.8236C>A	XP_011534122.1:p.Leu2746Ile
XM_017010851.2:c.8248C>A	XP_016866340.1:p.Leu2750Ile
XM_017010852.1:c.6373C>A	XP_016866341.1:p.Leu2125Ile