Canonical Allele Identifier: CA365608381

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129192820C>G , CM000668.2:g.129192820C>G	GRCh38
NC_000006.11:g.129513965C>G , CM000668.1:g.129513965C>G	GRCh37
NC_000006.10:g.129555658C>G	NCBI36
NG_008678.1:g.314680C>G , LRG_409:g.314680C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.1749C>G MANE Select	NP_000417.3:p.Tyr583Ter
ENST00000421865.3:c.1749C>G MANE Select	ENSP00000400365.2:p.Tyr583Ter
NM_000426.3:c.1749C>G , LRG_409t1:c.1749C>G	NP_000417.2:p.Tyr583Ter
NM_001079823.1:c.1749C>G	NP_001073291.1:p.Tyr583Ter
NM_001079823.2:c.1749C>G	NP_001073291.2:p.Tyr583Ter
ENST00000421865.2:c.1749C>G	ENSP00000400365.2:p.Tyr583Ter
ENST00000617695.4:c.1749C>G	ENSP00000481744.1:p.Tyr583Ter
ENST00000617695.5:c.1749C>G	ENSP00000481744.2:p.Tyr583Ter
ENST00000618192.4:c.1749C>G	ENSP00000480802.1:p.Tyr583Ter
ENST00000618192.5:c.1749C>G	ENSP00000480802.2:p.Tyr583Ter
ENST00000686599.1:n.1854C>G
ENST00000690881.1:n.1212C>G
XM_005266981.2:c.1749C>G	XP_005267038.1:p.Tyr583Ter
XM_005266981.3:c.1749C>G	XP_005267038.1:p.Tyr583Ter
XM_005266982.2:c.1749C>G	XP_005267039.1:p.Tyr583Ter
XM_005266982.3:c.1749C>G	XP_005267039.1:p.Tyr583Ter
XM_011535820.1:c.1749C>G	XP_011534122.1:p.Tyr583Ter
XM_011535820.2:c.1749C>G	XP_011534122.1:p.Tyr583Ter
XM_017010851.2:c.1755C>G	XP_016866340.1:p.Tyr585Ter
XM_017010853.1:c.1749C>G	XP_016866342.1:p.Tyr583Ter