Canonical Allele Identifier: CA365628377
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481416A>T , CM000668.2:g.129481416A>T GRCh38
NC_000006.11:g.129802561A>T , CM000668.1:g.129802561A>T GRCh37
NC_000006.10:g.129844254A>T NCBI36
NG_008678.1:g.603276A>T , LRG_409:g.603276A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7714A>T ENSP00000481744.2:p.Arg2572Ter
ENST00000618192.5:c.7990A>T ENSP00000480802.2:p.Arg2664Ter
ENST00000421865.3:c.7726A>T MANE Select ENSP00000400365.2:p.Arg2576Ter
ENST00000421865.2:c.7726A>T ENSP00000400365.2:p.Arg2576Ter
ENST00000617695.4:c.7714A>T ENSP00000481744.1:p.Arg2572Ter
ENST00000618192.4:c.7723A>T ENSP00000480802.1:p.Arg2575Ter
NM_000426.3:c.7726A>T , LRG_409t1:c.7726A>T NP_000417.2:p.Arg2576Ter
NM_001079823.1:c.7714A>T NP_001073291.1:p.Arg2572Ter
XM_005266981.2:c.7990A>T XP_005267038.1:p.Arg2664Ter
XM_005266982.2:c.7978A>T XP_005267039.1:p.Arg2660Ter
XM_011535820.1:c.7984A>T XP_011534122.1:p.Arg2662Ter
XM_005266981.3:c.7990A>T XP_005267038.1:p.Arg2664Ter
XM_005266982.3:c.7978A>T XP_005267039.1:p.Arg2660Ter
XM_011535820.2:c.7984A>T XP_011534122.1:p.Arg2662Ter
XM_017010851.2:c.7996A>T XP_016866340.1:p.Arg2666Ter
XM_017010852.1:c.6121A>T XP_016866341.1:p.Arg2041Ter
NM_000426.4:c.7726A>T MANE Select NP_000417.3:p.Arg2576Ter
NM_001079823.2:c.7714A>T NP_001073291.2:p.Arg2572Ter