Canonical Allele Identifier: CA3995088

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516240A>G , CM000668.2:g.129516240A>G	GRCh38
NC_000006.11:g.129837385A>G , CM000668.1:g.129837385A>G	GRCh37
NC_000006.10:g.129879078A>G	NCBI36
NG_008678.1:g.638100A>G , LRG_409:g.638100A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9262A>G MANE Select	NP_000417.3:p.Ile3088Val
ENST00000421865.3:c.9262A>G MANE Select	ENSP00000400365.2:p.Ile3088Val
NM_000426.3:c.9262A>G , LRG_409t1:c.9262A>G	NP_000417.2:p.Ile3088Val
NM_001079823.1:c.9250A>G	NP_001073291.1:p.Ile3084Val
NM_001079823.2:c.9250A>G	NP_001073291.2:p.Ile3084Val
ENST00000421865.2:c.9262A>G	ENSP00000400365.2:p.Ile3088Val
ENST00000494137.2:c.1327A>G	ENSP00000510626.1:p.Ile443Val
ENST00000498257.6:c.1327A>G	ENSP00000510533.1:p.Ile443Val
ENST00000617695.4:c.9250A>G	ENSP00000481744.1:p.Ile3084Val
ENST00000617695.5:c.9250A>G	ENSP00000481744.2:p.Ile3084Val
ENST00000618192.4:c.9259A>G	ENSP00000480802.1:p.Ile3087Val
ENST00000618192.5:c.9526A>G	ENSP00000480802.2:p.Ile3176Val
ENST00000688198.1:n.2240A>G
ENST00000688799.1:c.1327A>G	ENSP00000508458.1:p.Ile443Val
ENST00000690858.1:n.4135A>G
ENST00000693461.1:n.1599A>G
XM_005266981.2:c.9526A>G	XP_005267038.1:p.Ile3176Val
XM_005266981.3:c.9526A>G	XP_005267038.1:p.Ile3176Val
XM_005266982.2:c.9514A>G	XP_005267039.1:p.Ile3172Val
XM_005266982.3:c.9514A>G	XP_005267039.1:p.Ile3172Val
XM_011535820.1:c.9520A>G	XP_011534122.1:p.Ile3174Val
XM_011535820.2:c.9520A>G	XP_011534122.1:p.Ile3174Val
XM_017010851.2:c.9532A>G	XP_016866340.1:p.Ile3178Val
XM_017010852.1:c.7657A>G	XP_016866341.1:p.Ile2553Val
XR_001743859.1:n.3900+6237T>C
XR_001743860.1:n.1179+6237T>C
XR_001743861.1:n.1346+6237T>C
XR_001743863.1:n.883-13449T>C
XR_002956395.1:n.9131+6237T>C
XR_002956396.1:n.3126+6237T>C
XR_942984.1:n.1460+6237T>C
XR_942985.1:n.1324+6237T>C