Canonical Allele Identifier: CA365636875

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514459G>A , CM000668.2:g.129514459G>A	GRCh38
NC_000006.11:g.129835604G>A , CM000668.1:g.129835604G>A	GRCh37
NC_000006.10:g.129877297G>A	NCBI36
NG_008678.1:g.636319G>A , LRG_409:g.636319G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9075G>A MANE Select	NP_000417.3:p.Trp3025Ter
ENST00000421865.3:c.9075G>A MANE Select	ENSP00000400365.2:p.Trp3025Ter
NM_000426.3:c.9075G>A , LRG_409t1:c.9075G>A	NP_000417.2:p.Trp3025Ter
NM_001079823.1:c.9063G>A	NP_001073291.1:p.Trp3021Ter
NM_001079823.2:c.9063G>A	NP_001073291.2:p.Trp3021Ter
ENST00000421865.2:c.9075G>A	ENSP00000400365.2:p.Trp3025Ter
ENST00000494137.2:c.1140G>A	ENSP00000510626.1:p.Trp380Ter
ENST00000498257.6:c.1140G>A	ENSP00000510533.1:p.Trp380Ter
ENST00000617695.4:c.9063G>A	ENSP00000481744.1:p.Trp3021Ter
ENST00000617695.5:c.9063G>A	ENSP00000481744.2:p.Trp3021Ter
ENST00000618192.4:c.9072G>A	ENSP00000480802.1:p.Trp3024Ter
ENST00000618192.5:c.9339G>A	ENSP00000480802.2:p.Trp3113Ter
ENST00000688198.1:n.2053G>A
ENST00000688799.1:c.1140G>A	ENSP00000508458.1:p.Trp380Ter
ENST00000690858.1:n.3948G>A
ENST00000693461.1:n.1412G>A
XM_005266981.2:c.9339G>A	XP_005267038.1:p.Trp3113Ter
XM_005266981.3:c.9339G>A	XP_005267038.1:p.Trp3113Ter
XM_005266982.2:c.9327G>A	XP_005267039.1:p.Trp3109Ter
XM_005266982.3:c.9327G>A	XP_005267039.1:p.Trp3109Ter
XM_011535820.1:c.9333G>A	XP_011534122.1:p.Trp3111Ter
XM_011535820.2:c.9333G>A	XP_011534122.1:p.Trp3111Ter
XM_017010851.2:c.9345G>A	XP_016866340.1:p.Trp3115Ter
XM_017010852.1:c.7470G>A	XP_016866341.1:p.Trp2490Ter
XR_001743859.1:n.3900+8018C>T
XR_001743860.1:n.1179+8018C>T
XR_001743861.1:n.1346+8018C>T
XR_001743863.1:n.883-11668C>T
XR_002956395.1:n.9131+8018C>T
XR_002956396.1:n.3126+8018C>T
XR_942984.1:n.1460+8018C>T
XR_942985.1:n.1324+8018C>T