Canonical Allele Identifier: CA365621791
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129465206C>A , CM000668.2:g.129465206C>A GRCh38
NC_000006.11:g.129786351C>A , CM000668.1:g.129786351C>A GRCh37
NC_000006.10:g.129828044C>A NCBI36
NG_008678.1:g.587066C>A , LRG_409:g.587066C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7217C>A ENSP00000481744.2:p.Ser2406Ter
ENST00000618192.5:c.7481C>A ENSP00000480802.2:p.Ser2494Ter
ENST00000684985.1:n.848C>A
ENST00000688150.1:n.556C>A
ENST00000421865.3:c.7217C>A MANE Select ENSP00000400365.2:p.Ser2406Ter
ENST00000421865.2:c.7217C>A ENSP00000400365.2:p.Ser2406Ter
ENST00000617695.4:c.7217C>A ENSP00000481744.1:p.Ser2406Ter
ENST00000618192.4:c.7214C>A ENSP00000480802.1:p.Ser2405Ter
NM_000426.3:c.7217C>A , LRG_409t1:c.7217C>A NP_000417.2:p.Ser2406Ter
NM_001079823.1:c.7217C>A NP_001073291.1:p.Ser2406Ter
XM_005266981.2:c.7481C>A XP_005267038.1:p.Ser2494Ter
XM_005266982.2:c.7481C>A XP_005267039.1:p.Ser2494Ter
XM_011535820.1:c.7475C>A XP_011534122.1:p.Ser2492Ter
XM_005266981.3:c.7481C>A XP_005267038.1:p.Ser2494Ter
XM_005266982.3:c.7481C>A XP_005267039.1:p.Ser2494Ter
XM_011535820.2:c.7475C>A XP_011534122.1:p.Ser2492Ter
XM_017010851.2:c.7487C>A XP_016866340.1:p.Ser2496Ter
XM_017010852.1:c.5612C>A XP_016866341.1:p.Ser1871Ter
NM_000426.4:c.7217C>A MANE Select NP_000417.3:p.Ser2406Ter
NM_001079823.2:c.7217C>A NP_001073291.2:p.Ser2406Ter