Canonical Allele Identifier: CA3995047

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514541C>T , CM000668.2:g.129514541C>T	GRCh38
NC_000006.11:g.129835686C>T , CM000668.1:g.129835686C>T	GRCh37
NC_000006.10:g.129877379C>T	NCBI36
NG_008678.1:g.636401C>T , LRG_409:g.636401C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9157C>T MANE Select	NP_000417.3:p.Pro3053Ser
ENST00000421865.3:c.9157C>T MANE Select	ENSP00000400365.2:p.Pro3053Ser
NM_000426.3:c.9157C>T , LRG_409t1:c.9157C>T	NP_000417.2:p.Pro3053Ser
NM_001079823.1:c.9145C>T	NP_001073291.1:p.Pro3049Ser
NM_001079823.2:c.9145C>T	NP_001073291.2:p.Pro3049Ser
ENST00000421865.2:c.9157C>T	ENSP00000400365.2:p.Pro3053Ser
ENST00000494137.2:c.1222C>T	ENSP00000510626.1:p.Pro408Ser
ENST00000498257.6:c.1222C>T	ENSP00000510533.1:p.Pro408Ser
ENST00000617695.4:c.9145C>T	ENSP00000481744.1:p.Pro3049Ser
ENST00000617695.5:c.9145C>T	ENSP00000481744.2:p.Pro3049Ser
ENST00000618192.4:c.9154C>T	ENSP00000480802.1:p.Pro3052Ser
ENST00000618192.5:c.9421C>T	ENSP00000480802.2:p.Pro3141Ser
ENST00000688198.1:n.2135C>T
ENST00000688799.1:c.1222C>T	ENSP00000508458.1:p.Pro408Ser
ENST00000690858.1:n.4030C>T
ENST00000693461.1:n.1494C>T
XM_005266981.2:c.9421C>T	XP_005267038.1:p.Pro3141Ser
XM_005266981.3:c.9421C>T	XP_005267038.1:p.Pro3141Ser
XM_005266982.2:c.9409C>T	XP_005267039.1:p.Pro3137Ser
XM_005266982.3:c.9409C>T	XP_005267039.1:p.Pro3137Ser
XM_011535820.1:c.9415C>T	XP_011534122.1:p.Pro3139Ser
XM_011535820.2:c.9415C>T	XP_011534122.1:p.Pro3139Ser
XM_017010851.2:c.9427C>T	XP_016866340.1:p.Pro3143Ser
XM_017010852.1:c.7552C>T	XP_016866341.1:p.Pro2518Ser
XR_001743859.1:n.3900+7936G>A
XR_001743860.1:n.1179+7936G>A
XR_001743861.1:n.1346+7936G>A
XR_001743863.1:n.883-11750G>A
XR_002956395.1:n.9131+7936G>A
XR_002956396.1:n.3126+7936G>A
XR_942984.1:n.1460+7936G>A
XR_942985.1:n.1324+7936G>A