Canonical Allele Identifier: CA1663195014

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129516226C= , CM000668.2:g.129516226C=	GRCh38
NC_000006.11:g.129837371C= , CM000668.1:g.129837371C=	GRCh37
NC_000006.10:g.129879064C=	NCBI36
NG_008678.1:g.638086C= , LRG_409:g.638086C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000494137.2:c.1313C=	ENSP00000510626.1:p.Pro438=
ENST00000498257.6:c.1313C=	ENSP00000510533.1:p.Pro438=
ENST00000617695.5:c.9236C=	ENSP00000481744.2:p.Pro3079=
ENST00000618192.5:c.9512C=	ENSP00000480802.2:p.Pro3171=
ENST00000688198.1:n.2226C=
ENST00000688799.1:c.1313C=	ENSP00000508458.1:p.Pro438=
ENST00000690858.1:n.4121C=
ENST00000693461.1:n.1585C=
ENST00000421865.3:c.9248C= MANE Select	ENSP00000400365.2:p.Pro3083=
ENST00000421865.2:c.9248C=	ENSP00000400365.2:p.Pro3083=
ENST00000617695.4:c.9236C=	ENSP00000481744.1:p.Pro3079=
ENST00000618192.4:c.9245C=	ENSP00000480802.1:p.Pro3082=
NM_000426.3:c.9248C= , LRG_409t1:c.9248C=	NP_000417.2:p.Pro3083=
NM_001079823.1:c.9236C=	NP_001073291.1:p.Pro3079=
XM_005266981.2:c.9512C=	XP_005267038.1:p.Pro3171=
XM_005266982.2:c.9500C=	XP_005267039.1:p.Pro3167=
XM_011535820.1:c.9506C=	XP_011534122.1:p.Pro3169=
XR_942984.1:n.1460+6251G=
XR_942985.1:n.1324+6251G=
XM_005266981.3:c.9512C=	XP_005267038.1:p.Pro3171=
XM_005266982.3:c.9500C=	XP_005267039.1:p.Pro3167=
XM_011535820.2:c.9506C=	XP_011534122.1:p.Pro3169=
XM_017010851.2:c.9518C=	XP_016866340.1:p.Pro3173=
XM_017010852.1:c.7643C=	XP_016866341.1:p.Pro2548=
XR_001743859.1:n.3900+6251G=
XR_001743860.1:n.1179+6251G=
XR_001743861.1:n.1346+6251G=
XR_001743863.1:n.883-13435G=
XR_002956395.1:n.9131+6251G=
XR_002956396.1:n.3126+6251G=
NM_000426.4:c.9248C= MANE Select	NP_000417.3:p.Pro3083=
NM_001079823.2:c.9236C=	NP_001073291.2:p.Pro3079=