Canonical Allele Identifier: CA257204

Gene: LAMA2

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516231C>T , CM000668.2:g.129516231C>T	GRCh38
NC_000006.11:g.129837376C>T , CM000668.1:g.129837376C>T	GRCh37
NC_000006.10:g.129879069C>T	NCBI36
NG_008678.1:g.638091C>T , LRG_409:g.638091C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1318C>T	ENSP00000510626.1:p.Arg440Ter
ENST00000498257.6:c.1318C>T	ENSP00000510533.1:p.Arg440Ter
ENST00000617695.5:c.9241C>T	ENSP00000481744.2:p.Arg3081Ter
ENST00000618192.5:c.9517C>T	ENSP00000480802.2:p.Arg3173Ter
ENST00000688198.1:n.2231C>T
ENST00000688799.1:c.1318C>T	ENSP00000508458.1:p.Arg440Ter
ENST00000690858.1:n.4126C>T
ENST00000693461.1:n.1590C>T
ENST00000421865.3:c.9253C>T MANE Select	ENSP00000400365.2:p.Arg3085Ter
ENST00000421865.2:c.9253C>T	ENSP00000400365.2:p.Arg3085Ter
ENST00000617695.4:c.9241C>T	ENSP00000481744.1:p.Arg3081Ter
ENST00000618192.4:c.9250C>T	ENSP00000480802.1:p.Arg3084Ter
NM_000426.3:c.9253C>T , LRG_409t1:c.9253C>T	NP_000417.2:p.Arg3085Ter
NM_001079823.1:c.9241C>T	NP_001073291.1:p.Arg3081Ter
XM_005266981.2:c.9517C>T	XP_005267038.1:p.Arg3173Ter
XM_005266982.2:c.9505C>T	XP_005267039.1:p.Arg3169Ter
XM_011535820.1:c.9511C>T	XP_011534122.1:p.Arg3171Ter
XR_942984.1:n.1460+6246G>A
XR_942985.1:n.1324+6246G>A
XM_005266981.3:c.9517C>T	XP_005267038.1:p.Arg3173Ter
XM_005266982.3:c.9505C>T	XP_005267039.1:p.Arg3169Ter
XM_011535820.2:c.9511C>T	XP_011534122.1:p.Arg3171Ter
XM_017010851.2:c.9523C>T	XP_016866340.1:p.Arg3175Ter
XM_017010852.1:c.7648C>T	XP_016866341.1:p.Arg2550Ter
XR_001743859.1:n.3900+6246G>A
XR_001743860.1:n.1179+6246G>A
XR_001743861.1:n.1346+6246G>A
XR_001743863.1:n.883-13440G>A
XR_002956395.1:n.9131+6246G>A
XR_002956396.1:n.3126+6246G>A
NM_000426.4:c.9253C>T MANE Select	NP_000417.3:p.Arg3085Ter
NM_001079823.2:c.9241C>T	NP_001073291.2:p.Arg3081Ter