Canonical Allele Identifier: CA365622655

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129366258T>A , CM000668.2:g.129366258T>A	GRCh38
NC_000006.11:g.129687403T>A , CM000668.1:g.129687403T>A	GRCh37
NC_000006.10:g.129729096T>A	NCBI36
NG_008678.1:g.488118T>A , LRG_409:g.488118T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.4757T>A MANE Select	NP_000417.3:p.Leu1586Ter
ENST00000421865.3:c.4757T>A MANE Select	ENSP00000400365.2:p.Leu1586Ter
NM_000426.3:c.4757T>A , LRG_409t1:c.4757T>A	NP_000417.2:p.Leu1586Ter
NM_001079823.1:c.4757T>A	NP_001073291.1:p.Leu1586Ter
NM_001079823.2:c.4757T>A	NP_001073291.2:p.Leu1586Ter
ENST00000421865.2:c.4757T>A	ENSP00000400365.2:p.Leu1586Ter
ENST00000617695.4:c.4757T>A	ENSP00000481744.1:p.Leu1586Ter
ENST00000617695.5:c.4757T>A	ENSP00000481744.2:p.Leu1586Ter
ENST00000618192.4:c.4757T>A	ENSP00000480802.1:p.Leu1586Ter
ENST00000618192.5:c.5021T>A	ENSP00000480802.2:p.Leu1674Ter
ENST00000687590.1:n.1177T>A
ENST00000693425.1:n.283T>A
XM_005266981.2:c.5021T>A	XP_005267038.1:p.Leu1674Ter
XM_005266981.3:c.5021T>A	XP_005267038.1:p.Leu1674Ter
XM_005266982.2:c.5021T>A	XP_005267039.1:p.Leu1674Ter
XM_005266982.3:c.5021T>A	XP_005267039.1:p.Leu1674Ter
XM_011535820.1:c.5021T>A	XP_011534122.1:p.Leu1674Ter
XM_011535820.2:c.5021T>A	XP_011534122.1:p.Leu1674Ter
XM_017010851.2:c.5027T>A	XP_016866340.1:p.Leu1676Ter
XM_017010852.1:c.3152T>A	XP_016866341.1:p.Leu1051Ter
XM_017010853.1:c.5021T>A	XP_016866342.1:p.Leu1674Ter