Canonical Allele Identifier: CA365637015

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129514523G>T , CM000668.2:g.129514523G>T	GRCh38
NC_000006.11:g.129835668G>T , CM000668.1:g.129835668G>T	GRCh37
NC_000006.10:g.129877361G>T	NCBI36
NG_008678.1:g.636383G>T , LRG_409:g.636383G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.9139G>T MANE Select	NP_000417.3:p.Glu3047Ter
ENST00000421865.3:c.9139G>T MANE Select	ENSP00000400365.2:p.Glu3047Ter
NM_000426.3:c.9139G>T , LRG_409t1:c.9139G>T	NP_000417.2:p.Glu3047Ter
NM_001079823.1:c.9127G>T	NP_001073291.1:p.Glu3043Ter
NM_001079823.2:c.9127G>T	NP_001073291.2:p.Glu3043Ter
ENST00000421865.2:c.9139G>T	ENSP00000400365.2:p.Glu3047Ter
ENST00000494137.2:c.1204G>T	ENSP00000510626.1:p.Glu402Ter
ENST00000498257.6:c.1204G>T	ENSP00000510533.1:p.Glu402Ter
ENST00000617695.4:c.9127G>T	ENSP00000481744.1:p.Glu3043Ter
ENST00000617695.5:c.9127G>T	ENSP00000481744.2:p.Glu3043Ter
ENST00000618192.4:c.9136G>T	ENSP00000480802.1:p.Glu3046Ter
ENST00000618192.5:c.9403G>T	ENSP00000480802.2:p.Glu3135Ter
ENST00000688198.1:n.2117G>T
ENST00000688799.1:c.1204G>T	ENSP00000508458.1:p.Glu402Ter
ENST00000690858.1:n.4012G>T
ENST00000693461.1:n.1476G>T
XM_005266981.2:c.9403G>T	XP_005267038.1:p.Glu3135Ter
XM_005266981.3:c.9403G>T	XP_005267038.1:p.Glu3135Ter
XM_005266982.2:c.9391G>T	XP_005267039.1:p.Glu3131Ter
XM_005266982.3:c.9391G>T	XP_005267039.1:p.Glu3131Ter
XM_011535820.1:c.9397G>T	XP_011534122.1:p.Glu3133Ter
XM_011535820.2:c.9397G>T	XP_011534122.1:p.Glu3133Ter
XM_017010851.2:c.9409G>T	XP_016866340.1:p.Glu3137Ter
XM_017010852.1:c.7534G>T	XP_016866341.1:p.Glu2512Ter
XR_001743859.1:n.3900+7954C>A
XR_001743860.1:n.1179+7954C>A
XR_001743861.1:n.1346+7954C>A
XR_001743863.1:n.883-11732C>A
XR_002956395.1:n.9131+7954C>A
XR_002956396.1:n.3126+7954C>A
XR_942984.1:n.1460+7954C>A
XR_942985.1:n.1324+7954C>A