Canonical Allele Identifier: CA3995027

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514444G>A , CM000668.2:g.129514444G>A	GRCh38
NC_000006.11:g.129835589G>A , CM000668.1:g.129835589G>A	GRCh37
NC_000006.10:g.129877282G>A	NCBI36
NG_008678.1:g.636304G>A , LRG_409:g.636304G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9060G>A MANE Select	NP_000417.3:p.Leu3020=
ENST00000421865.3:c.9060G>A MANE Select	ENSP00000400365.2:p.Leu3020=
NM_000426.3:c.9060G>A , LRG_409t1:c.9060G>A	NP_000417.2:p.Leu3020=
NM_001079823.1:c.9048G>A	NP_001073291.1:p.Leu3016=
NM_001079823.2:c.9048G>A	NP_001073291.2:p.Leu3016=
ENST00000421865.2:c.9060G>A	ENSP00000400365.2:p.Leu3020=
ENST00000494137.2:c.1125G>A	ENSP00000510626.1:p.Leu375=
ENST00000498257.6:c.1125G>A	ENSP00000510533.1:p.Leu375=
ENST00000617695.4:c.9048G>A	ENSP00000481744.1:p.Leu3016=
ENST00000617695.5:c.9048G>A	ENSP00000481744.2:p.Leu3016=
ENST00000618192.4:c.9057G>A	ENSP00000480802.1:p.Leu3019=
ENST00000618192.5:c.9324G>A	ENSP00000480802.2:p.Leu3108=
ENST00000688198.1:n.2038G>A
ENST00000688799.1:c.1125G>A	ENSP00000508458.1:p.Leu375=
ENST00000690858.1:n.3933G>A
ENST00000693461.1:n.1397G>A
XM_005266981.2:c.9324G>A	XP_005267038.1:p.Leu3108=
XM_005266981.3:c.9324G>A	XP_005267038.1:p.Leu3108=
XM_005266982.2:c.9312G>A	XP_005267039.1:p.Leu3104=
XM_005266982.3:c.9312G>A	XP_005267039.1:p.Leu3104=
XM_011535820.1:c.9318G>A	XP_011534122.1:p.Leu3106=
XM_011535820.2:c.9318G>A	XP_011534122.1:p.Leu3106=
XM_017010851.2:c.9330G>A	XP_016866340.1:p.Leu3110=
XM_017010852.1:c.7455G>A	XP_016866341.1:p.Leu2485=
XR_001743859.1:n.3900+8033C>T
XR_001743860.1:n.1179+8033C>T
XR_001743861.1:n.1346+8033C>T
XR_001743863.1:n.883-11653C>T
XR_002956395.1:n.9131+8033C>T
XR_002956396.1:n.3126+8033C>T
XR_942984.1:n.1460+8033C>T
XR_942985.1:n.1324+8033C>T