Canonical Allele Identifier: CA365634742
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129505215A>C , CM000668.2:g.129505215A>C GRCh38
NC_000006.11:g.129826360A>C , CM000668.1:g.129826360A>C GRCh37
NC_000006.10:g.129868053A>C NCBI36
NG_008678.1:g.627075A>C , LRG_409:g.627075A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000494137.2:c.628A>C ENSP00000510626.1:p.Ser210Arg
ENST00000498257.6:c.628A>C ENSP00000510533.1:p.Ser210Arg
ENST00000617695.5:c.8551A>C ENSP00000481744.2:p.Ser2851Arg
ENST00000618192.5:c.8827A>C ENSP00000480802.2:p.Ser2943Arg
ENST00000688198.1:n.1541A>C
ENST00000688799.1:c.628A>C ENSP00000508458.1:p.Ser210Arg
ENST00000690858.1:n.1557A>C
ENST00000693461.1:n.900A>C
ENST00000421865.3:c.8563A>C MANE Select ENSP00000400365.2:p.Ser2855Arg
ENST00000421865.2:c.8563A>C ENSP00000400365.2:p.Ser2855Arg
ENST00000617695.4:c.8551A>C ENSP00000481744.1:p.Ser2851Arg
ENST00000618192.4:c.8560A>C ENSP00000480802.1:p.Ser2854Arg
NM_000426.3:c.8563A>C , LRG_409t1:c.8563A>C NP_000417.2:p.Ser2855Arg
NM_001079823.1:c.8551A>C NP_001073291.1:p.Ser2851Arg
XM_005266981.2:c.8827A>C XP_005267038.1:p.Ser2943Arg
XM_005266982.2:c.8815A>C XP_005267039.1:p.Ser2939Arg
XM_011535820.1:c.8821A>C XP_011534122.1:p.Ser2941Arg
XR_942984.1:n.1461-2424T>G
XR_942985.1:n.1325-2424T>G
XM_005266981.3:c.8827A>C XP_005267038.1:p.Ser2943Arg
XM_005266982.3:c.8815A>C XP_005267039.1:p.Ser2939Arg
XM_011535820.2:c.8821A>C XP_011534122.1:p.Ser2941Arg
XM_017010851.2:c.8833A>C XP_016866340.1:p.Ser2945Arg
XM_017010852.1:c.6958A>C XP_016866341.1:p.Ser2320Arg
XR_001743859.1:n.3901-2424T>G
XR_001743860.1:n.1180-2424T>G
XR_001743861.1:n.1347-2424T>G
XR_001743863.1:n.883-2424T>G
XR_002956395.1:n.9132-2424T>G
XR_002956396.1:n.3127-2424T>G
NM_000426.4:c.8563A>C MANE Select NP_000417.3:p.Ser2855Arg
NM_001079823.2:c.8551A>C NP_001073291.2:p.Ser2851Arg