Canonical Allele Identifier: CA365637169

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514596G>A , CM000668.2:g.129514596G>A	GRCh38
NC_000006.11:g.129835741G>A , CM000668.1:g.129835741G>A	GRCh37
NC_000006.10:g.129877434G>A	NCBI36
NG_008678.1:g.636456G>A , LRG_409:g.636456G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9211+1G>A MANE Select	NP_000417.3:n.9211+1G>A
ENST00000421865.3:c.9211+1G>A MANE Select	ENSP00000400365.2:n.9211+1G>A
NM_000426.3:c.9211+1G>A , LRG_409t1:c.9211+1G>A	NP_000417.2:n.9211+1G>A
NM_001079823.1:c.9199+1G>A	NP_001073291.1:n.9199+1G>A
NM_001079823.2:c.9199+1G>A	NP_001073291.2:n.9199+1G>A
ENST00000421865.2:c.9211+1G>A	ENSP00000400365.2:n.9211+1G>A
ENST00000494137.2:c.1276+1G>A	ENSP00000510626.1:n.1276+1G>A
ENST00000498257.6:c.1276+1G>A	ENSP00000510533.1:n.1276+1G>A
ENST00000617695.4:c.9199+1G>A	ENSP00000481744.1:n.9199+1G>A
ENST00000617695.5:c.9199+1G>A	ENSP00000481744.2:n.9199+1G>A
ENST00000618192.4:c.9208+1G>A	ENSP00000480802.1:n.9208+1G>A
ENST00000618192.5:c.9475+1G>A	ENSP00000480802.2:n.9475+1G>A
ENST00000688198.1:n.2189+1G>A
ENST00000688799.1:c.1276+1G>A	ENSP00000508458.1:n.1276+1G>A
ENST00000690858.1:n.4084+1G>A
ENST00000693461.1:n.1548+1G>A
XM_005266981.2:c.9475+1G>A	XP_005267038.1:n.9475+1G>A
XM_005266981.3:c.9475+1G>A	XP_005267038.1:n.9475+1G>A
XM_005266982.2:c.9463+1G>A	XP_005267039.1:n.9463+1G>A
XM_005266982.3:c.9463+1G>A	XP_005267039.1:n.9463+1G>A
XM_011535820.1:c.9469+1G>A	XP_011534122.1:n.9469+1G>A
XM_011535820.2:c.9469+1G>A	XP_011534122.1:n.9469+1G>A
XM_017010851.2:c.9481+1G>A	XP_016866340.1:n.9481+1G>A
XM_017010852.1:c.7606+1G>A	XP_016866341.1:n.7606+1G>A
XR_001743859.1:n.3900+7881C>T
XR_001743860.1:n.1179+7881C>T
XR_001743861.1:n.1346+7881C>T
XR_001743863.1:n.883-11805C>T
XR_002956395.1:n.9131+7881C>T
XR_002956396.1:n.3126+7881C>T
XR_942984.1:n.1460+7881C>T
XR_942985.1:n.1324+7881C>T