Canonical Allele Identifier: CA365614091

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129391574A>T , CM000668.2:g.129391574A>T	GRCh38
NC_000006.11:g.129712719A>T , CM000668.1:g.129712719A>T	GRCh37
NC_000006.10:g.129754412A>T	NCBI36
NG_008678.1:g.513434A>T , LRG_409:g.513434A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.5155A>T MANE Select	NP_000417.3:p.Lys1719Ter
ENST00000421865.3:c.5155A>T MANE Select	ENSP00000400365.2:p.Lys1719Ter
NM_000426.3:c.5155A>T , LRG_409t1:c.5155A>T	NP_000417.2:p.Lys1719Ter
NM_001079823.1:c.5155A>T	NP_001073291.1:p.Lys1719Ter
NM_001079823.2:c.5155A>T	NP_001073291.2:p.Lys1719Ter
ENST00000421865.2:c.5155A>T	ENSP00000400365.2:p.Lys1719Ter
ENST00000617695.4:c.5155A>T	ENSP00000481744.1:p.Lys1719Ter
ENST00000617695.5:c.5155A>T	ENSP00000481744.2:p.Lys1719Ter
ENST00000618192.4:c.5155A>T	ENSP00000480802.1:p.Lys1719Ter
ENST00000618192.5:c.5419A>T	ENSP00000480802.2:p.Lys1807Ter
ENST00000687590.1:n.1575A>T
XM_005266981.2:c.5419A>T	XP_005267038.1:p.Lys1807Ter
XM_005266981.3:c.5419A>T	XP_005267038.1:p.Lys1807Ter
XM_005266982.2:c.5419A>T	XP_005267039.1:p.Lys1807Ter
XM_005266982.3:c.5419A>T	XP_005267039.1:p.Lys1807Ter
XM_011535820.1:c.5419A>T	XP_011534122.1:p.Lys1807Ter
XM_011535820.2:c.5419A>T	XP_011534122.1:p.Lys1807Ter
XM_017010851.2:c.5425A>T	XP_016866340.1:p.Lys1809Ter
XM_017010852.1:c.3550A>T	XP_016866341.1:p.Lys1184Ter
XM_017010853.1:c.5419A>T	XP_016866342.1:p.Lys1807Ter