Canonical Allele Identifier: CA365628317
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481399C>A , CM000668.2:g.129481399C>A GRCh38
NC_000006.11:g.129802544C>A , CM000668.1:g.129802544C>A GRCh37
NC_000006.10:g.129844237C>A NCBI36
NG_008678.1:g.603259C>A , LRG_409:g.603259C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7697C>A ENSP00000481744.2:p.Thr2566Lys
ENST00000618192.5:c.7973C>A ENSP00000480802.2:p.Thr2658Lys
ENST00000421865.3:c.7709C>A MANE Select ENSP00000400365.2:p.Thr2570Lys
ENST00000421865.2:c.7709C>A ENSP00000400365.2:p.Thr2570Lys
ENST00000617695.4:c.7697C>A ENSP00000481744.1:p.Thr2566Lys
ENST00000618192.4:c.7706C>A ENSP00000480802.1:p.Thr2569Lys
NM_000426.3:c.7709C>A , LRG_409t1:c.7709C>A NP_000417.2:p.Thr2570Lys
NM_001079823.1:c.7697C>A NP_001073291.1:p.Thr2566Lys
XM_005266981.2:c.7973C>A XP_005267038.1:p.Thr2658Lys
XM_005266982.2:c.7961C>A XP_005267039.1:p.Thr2654Lys
XM_011535820.1:c.7967C>A XP_011534122.1:p.Thr2656Lys
XM_005266981.3:c.7973C>A XP_005267038.1:p.Thr2658Lys
XM_005266982.3:c.7961C>A XP_005267039.1:p.Thr2654Lys
XM_011535820.2:c.7967C>A XP_011534122.1:p.Thr2656Lys
XM_017010851.2:c.7979C>A XP_016866340.1:p.Thr2660Lys
XM_017010852.1:c.6104C>A XP_016866341.1:p.Thr2035Lys
NM_000426.4:c.7709C>A MANE Select NP_000417.3:p.Thr2570Lys
NM_001079823.2:c.7697C>A NP_001073291.2:p.Thr2566Lys