Canonical Allele Identifier: CA220806
Gene: LAMA2 HGNC NCBI
ClinVar RCV:
RCV000179138
RCV001041852
ClinVar Variation:
92986
dbSNP:
398123387
gnomAD v2:
6:129799919 TC / T
gnomAD v3:
6:129478774 TC / T
gnomAD v4:
chr6-129478774-TC-T
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000262 (NFE)
MyVariant.info:
GRCh38 chr6:g.129478777del
GRCh38 chr6:g.129478775del
GRCh37 chr6:g.129799922del
GRCh37 chr6:g.129799920del
GRCh37 chr6:g.129799922delC
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129478777del , CM000668.2:g.129478777del GRCh38
NC_000006.11:g.129799922del , CM000668.1:g.129799922del GRCh37
NC_000006.10:g.129841615del NCBI36
NG_008678.1:g.600637del , LRG_409:g.600637del

Transcript Alleles

HGVS Amino-acid Change
ENST00000617695.5:c.7524del ENSP00000481744.2:p.Asp2509IlefsTer?
ENST00000618192.5:c.7800del ENSP00000480802.2:p.Asp2601IlefsTer?
ENST00000421865.3:c.7536del MANE Select ENSP00000400365.2:p.Asp2513IlefsTer?
ENST00000421865.2:c.7536del ENSP00000400365.2:p.Asp2513IlefsTer?
ENST00000617695.4:c.7524del ENSP00000481744.1:p.Asp2509IlefsTer?
ENST00000618192.4:c.7533del ENSP00000480802.1:p.Asp2512IlefsTer?
NM_000426.3:c.7536del , LRG_409t1:c.7536del NP_000417.2:p.Asp2513IlefsTer?
NM_001079823.1:c.7524del NP_001073291.1:p.Asp2509IlefsTer?
XM_005266981.2:c.7800del XP_005267038.1:p.Asp2601IlefsTer?
XM_005266982.2:c.7788del XP_005267039.1:p.Asp2597IlefsTer?
XM_011535820.1:c.7794del XP_011534122.1:p.Asp2599IlefsTer?
XM_005266981.3:c.7800del XP_005267038.1:p.Asp2601IlefsTer?
XM_005266982.3:c.7788del XP_005267039.1:p.Asp2597IlefsTer?
XM_011535820.2:c.7794del XP_011534122.1:p.Asp2599IlefsTer?
XM_017010851.2:c.7806del XP_016866340.1:p.Asp2603IlefsTer?
XM_017010852.1:c.5931del XP_016866341.1:p.Asp1978IlefsTer?
NM_000426.4:c.7536del MANE Select NP_000417.3:p.Asp2513IlefsTer?
NM_001079823.2:c.7524del NP_001073291.2:p.Asp2509IlefsTer?
Search 100 bp 5'
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