Canonical Allele Identifier: CA146907305
Gene: LAMA2 HGNC NCBI

Linked Data

dbSNP Id: rs531622069

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129349646_129349649del , CM000668.2:g.129349646_129349649del GRCh38
NC_000006.11:g.129670791_129670794del , CM000668.1:g.129670791_129670794del GRCh37
NC_000006.10:g.129712484_129712487del NCBI36
NG_008678.1:g.471506_471509del , LRG_409:g.471506_471509del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.4523+262_4523+265del ENSP00000481744.2:n.4523+262_4523+265del
ENST00000618192.5:c.4787+262_4787+265del ENSP00000480802.2:n.4787+262_4787+265del
ENST00000692206.1:n.172+262_172+265del
ENST00000693425.1:n.49+262_49+265del
ENST00000421865.3:c.4523+262_4523+265del MANE Select ENSP00000400365.2:n.4523+262_4523+265del
ENST00000421865.2:c.4523+262_4523+265del ENSP00000400365.2:n.4523+262_4523+265del
ENST00000617695.4:c.4523+262_4523+265del ENSP00000481744.1:n.4523+262_4523+265del
ENST00000618192.4:c.4523+262_4523+265del ENSP00000480802.1:n.4523+262_4523+265del
NM_000426.3:c.4523+262_4523+265del , LRG_409t1:c.4523+262_4523+265del NP_000417.2:n.4523+262_4523+265del
NM_001079823.1:c.4523+262_4523+265del NP_001073291.1:n.4523+262_4523+265del
XM_005266981.2:c.4787+262_4787+265del XP_005267038.1:n.4787+262_4787+265del
XM_005266982.2:c.4787+262_4787+265del XP_005267039.1:n.4787+262_4787+265del
XM_011535820.1:c.4787+262_4787+265del XP_011534122.1:n.4787+262_4787+265del
XM_005266981.3:c.4787+262_4787+265del XP_005267038.1:n.4787+262_4787+265del
XM_005266982.3:c.4787+262_4787+265del XP_005267039.1:n.4787+262_4787+265del
XM_011535820.2:c.4787+262_4787+265del XP_011534122.1:n.4787+262_4787+265del
XM_017010851.2:c.4793+262_4793+265del XP_016866340.1:n.4793+262_4793+265del
XM_017010852.1:c.2918+262_2918+265del XP_016866341.1:n.2918+262_2918+265del
XM_017010853.1:c.4787+262_4787+265del XP_016866342.1:n.4787+262_4787+265del
NM_000426.4:c.4523+262_4523+265del MANE Select NP_000417.3:n.4523+262_4523+265del
NM_001079823.2:c.4523+262_4523+265del NP_001073291.2:n.4523+262_4523+265del