Canonical Allele Identifier: CA365628434
Gene: LAMA2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129481431A>C , CM000668.2:g.129481431A>C GRCh38
NC_000006.11:g.129802576A>C , CM000668.1:g.129802576A>C GRCh37
NC_000006.10:g.129844269A>C NCBI36
NG_008678.1:g.603291A>C , LRG_409:g.603291A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7729A>C ENSP00000481744.2:p.Thr2577Pro
ENST00000618192.5:c.8005A>C ENSP00000480802.2:p.Thr2669Pro
ENST00000421865.3:c.7741A>C MANE Select ENSP00000400365.2:p.Thr2581Pro
ENST00000421865.2:c.7741A>C ENSP00000400365.2:p.Thr2581Pro
ENST00000617695.4:c.7729A>C ENSP00000481744.1:p.Thr2577Pro
ENST00000618192.4:c.7738A>C ENSP00000480802.1:p.Thr2580Pro
NM_000426.3:c.7741A>C , LRG_409t1:c.7741A>C NP_000417.2:p.Thr2581Pro
NM_001079823.1:c.7729A>C NP_001073291.1:p.Thr2577Pro
XM_005266981.2:c.8005A>C XP_005267038.1:p.Thr2669Pro
XM_005266982.2:c.7993A>C XP_005267039.1:p.Thr2665Pro
XM_011535820.1:c.7999A>C XP_011534122.1:p.Thr2667Pro
XM_005266981.3:c.8005A>C XP_005267038.1:p.Thr2669Pro
XM_005266982.3:c.7993A>C XP_005267039.1:p.Thr2665Pro
XM_011535820.2:c.7999A>C XP_011534122.1:p.Thr2667Pro
XM_017010851.2:c.8011A>C XP_016866340.1:p.Thr2671Pro
XM_017010852.1:c.6136A>C XP_016866341.1:p.Thr2046Pro
NM_000426.4:c.7741A>C MANE Select NP_000417.3:p.Thr2581Pro
NM_001079823.2:c.7729A>C NP_001073291.2:p.Thr2577Pro