Canonical Allele Identifier: CA365635480

Gene: LAMA2

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.129507510T>C , CM000668.2:g.129507510T>C	GRCh38
NC_000006.11:g.129828655T>C , CM000668.1:g.129828655T>C	GRCh37
NC_000006.10:g.129870348T>C	NCBI36
NG_008678.1:g.629370T>C , LRG_409:g.629370T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000426.4:c.8725T>C MANE Select	NP_000417.3:p.Cys2909Arg
ENST00000421865.3:c.8725T>C MANE Select	ENSP00000400365.2:p.Cys2909Arg
NM_000426.3:c.8725T>C , LRG_409t1:c.8725T>C	NP_000417.2:p.Cys2909Arg
NM_001079823.1:c.8713T>C	NP_001073291.1:p.Cys2905Arg
NM_001079823.2:c.8713T>C	NP_001073291.2:p.Cys2905Arg
ENST00000421865.2:c.8725T>C	ENSP00000400365.2:p.Cys2909Arg
ENST00000494137.2:c.790T>C	ENSP00000510626.1:p.Cys264Arg
ENST00000498257.6:c.790T>C	ENSP00000510533.1:p.Cys264Arg
ENST00000617695.4:c.8713T>C	ENSP00000481744.1:p.Cys2905Arg
ENST00000617695.5:c.8713T>C	ENSP00000481744.2:p.Cys2905Arg
ENST00000618192.4:c.8722T>C	ENSP00000480802.1:p.Cys2908Arg
ENST00000618192.5:c.8989T>C	ENSP00000480802.2:p.Cys2997Arg
ENST00000688198.1:n.1703T>C
ENST00000688799.1:c.790T>C	ENSP00000508458.1:p.Cys264Arg
ENST00000690858.1:n.1719T>C
ENST00000693461.1:n.1062T>C
XM_005266981.2:c.8989T>C	XP_005267038.1:p.Cys2997Arg
XM_005266981.3:c.8989T>C	XP_005267038.1:p.Cys2997Arg
XM_005266982.2:c.8977T>C	XP_005267039.1:p.Cys2993Arg
XM_005266982.3:c.8977T>C	XP_005267039.1:p.Cys2993Arg
XM_011535820.1:c.8983T>C	XP_011534122.1:p.Cys2995Arg
XM_011535820.2:c.8983T>C	XP_011534122.1:p.Cys2995Arg
XM_017010851.2:c.8995T>C	XP_016866340.1:p.Cys2999Arg
XM_017010852.1:c.7120T>C	XP_016866341.1:p.Cys2374Arg
XR_001743859.1:n.3901-4719A>G
XR_001743860.1:n.1180-4719A>G
XR_001743861.1:n.1347-4719A>G
XR_001743863.1:n.883-4719A>G
XR_002956395.1:n.9132-4719A>G
XR_002956396.1:n.3127-4719A>G
XR_942984.1:n.1461-4719A>G
XR_942985.1:n.1325-4719A>G