Canonical Allele Identifier: CA1663158029

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129505307G= , CM000668.2:g.129505307G=	GRCh38
NC_000006.11:g.129826452G= , CM000668.1:g.129826452G=	GRCh37
NC_000006.10:g.129868145G=	NCBI36
NG_008678.1:g.627167G= , LRG_409:g.627167G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.720G=	ENSP00000510626.1:p.Leu240=
ENST00000498257.6:c.720G=	ENSP00000510533.1:p.Leu240=
ENST00000617695.5:c.8643G=	ENSP00000481744.2:p.Leu2881=
ENST00000618192.5:c.8919G=	ENSP00000480802.2:p.Leu2973=
ENST00000688198.1:n.1633G=
ENST00000688799.1:c.720G=	ENSP00000508458.1:p.Leu240=
ENST00000690858.1:n.1649G=
ENST00000693461.1:n.992G=
ENST00000421865.3:c.8655G= MANE Select	ENSP00000400365.2:p.Leu2885=
ENST00000421865.2:c.8655G=	ENSP00000400365.2:p.Leu2885=
ENST00000617695.4:c.8643G=	ENSP00000481744.1:p.Leu2881=
ENST00000618192.4:c.8652G=	ENSP00000480802.1:p.Leu2884=
NM_000426.3:c.8655G= , LRG_409t1:c.8655G=	NP_000417.2:p.Leu2885=
NM_001079823.1:c.8643G=	NP_001073291.1:p.Leu2881=
XM_005266981.2:c.8919G=	XP_005267038.1:p.Leu2973=
XM_005266982.2:c.8907G=	XP_005267039.1:p.Leu2969=
XM_011535820.1:c.8913G=	XP_011534122.1:p.Leu2971=
XR_942984.1:n.1461-2516C=
XR_942985.1:n.1325-2516C=
XM_005266981.3:c.8919G=	XP_005267038.1:p.Leu2973=
XM_005266982.3:c.8907G=	XP_005267039.1:p.Leu2969=
XM_011535820.2:c.8913G=	XP_011534122.1:p.Leu2971=
XM_017010851.2:c.8925G=	XP_016866340.1:p.Leu2975=
XM_017010852.1:c.7050G=	XP_016866341.1:p.Leu2350=
XR_001743859.1:n.3901-2516C=
XR_001743860.1:n.1180-2516C=
XR_001743861.1:n.1347-2516C=
XR_001743863.1:n.883-2516C=
XR_002956395.1:n.9132-2516C=
XR_002956396.1:n.3127-2516C=
NM_000426.4:c.8655G= MANE Select	NP_000417.3:p.Leu2885=
NM_001079823.2:c.8643G=	NP_001073291.2:p.Leu2881=