Canonical Allele Identifier: CA1663079980

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129315604C= , CM000668.2:g.129315604C=	GRCh38
NC_000006.11:g.129636749C= , CM000668.1:g.129636749C=	GRCh37
NC_000006.10:g.129678442C=	NCBI36
NG_008678.1:g.437464C= , LRG_409:g.437464C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617695.5:c.3684C=	ENSP00000481744.2:p.Leu1228=
ENST00000618192.5:c.3948C=	ENSP00000480802.2:p.Leu1316=
ENST00000421865.3:c.3684C= MANE Select	ENSP00000400365.2:p.Leu1228=
ENST00000421865.2:c.3684C=	ENSP00000400365.2:p.Leu1228=
ENST00000617695.4:c.3684C=	ENSP00000481744.1:p.Leu1228=
ENST00000618192.4:c.3684C=	ENSP00000480802.1:p.Leu1228=
NM_000426.3:c.3684C= , LRG_409t1:c.3684C=	NP_000417.2:p.Leu1228=
NM_001079823.1:c.3684C=	NP_001073291.1:p.Leu1228=
XM_005266981.2:c.3948C=	XP_005267038.1:p.Leu1316=
XM_005266982.2:c.3948C=	XP_005267039.1:p.Leu1316=
XM_011535820.1:c.3948C=	XP_011534122.1:p.Leu1316=
XM_005266981.3:c.3948C=	XP_005267038.1:p.Leu1316=
XM_005266982.3:c.3948C=	XP_005267039.1:p.Leu1316=
XM_011535820.2:c.3948C=	XP_011534122.1:p.Leu1316=
XM_017010851.2:c.3954C=	XP_016866340.1:p.Leu1318=
XM_017010852.1:c.2079C=	XP_016866341.1:p.Leu693=
XM_017010853.1:c.3948C=	XP_016866342.1:p.Leu1316=
NM_000426.4:c.3684C= MANE Select	NP_000417.3:p.Leu1228=
NM_001079823.2:c.3684C=	NP_001073291.2:p.Leu1228=