Canonical Allele Identifier: CA147280362

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129098280T>A , CM000668.2:g.129098280T>A	GRCh38
NC_000006.11:g.129419425T>A , CM000668.1:g.129419425T>A	GRCh37
NC_000006.10:g.129461118T>A	NCBI36
NG_008678.1:g.220140T>A , LRG_409:g.220140T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.504T>A MANE Select	NP_000417.3:p.Tyr168Ter
ENST00000421865.3:c.504T>A MANE Select	ENSP00000400365.2:p.Tyr168Ter
NM_000426.3:c.504T>A , LRG_409t1:c.504T>A	NP_000417.2:p.Tyr168Ter
NM_001079823.1:c.504T>A	NP_001073291.1:p.Tyr168Ter
NM_001079823.2:c.504T>A	NP_001073291.2:p.Tyr168Ter
ENST00000421865.2:c.504T>A	ENSP00000400365.2:p.Tyr168Ter
ENST00000617695.4:c.504T>A	ENSP00000481744.1:p.Tyr168Ter
ENST00000617695.5:c.504T>A	ENSP00000481744.2:p.Tyr168Ter
ENST00000618192.4:c.504T>A	ENSP00000480802.1:p.Tyr168Ter
ENST00000618192.5:c.504T>A	ENSP00000480802.2:p.Tyr168Ter
ENST00000686577.1:n.570T>A
ENST00000686599.1:n.609T>A
ENST00000689044.1:n.394T>A
XM_005266981.2:c.504T>A	XP_005267038.1:p.Tyr168Ter
XM_005266981.3:c.504T>A	XP_005267038.1:p.Tyr168Ter
XM_005266982.2:c.504T>A	XP_005267039.1:p.Tyr168Ter
XM_005266982.3:c.504T>A	XP_005267039.1:p.Tyr168Ter
XM_011535820.1:c.504T>A	XP_011534122.1:p.Tyr168Ter
XM_011535820.2:c.504T>A	XP_011534122.1:p.Tyr168Ter
XM_017010851.2:c.510T>A	XP_016866340.1:p.Tyr170Ter
XM_017010853.1:c.504T>A	XP_016866342.1:p.Tyr168Ter