Canonical Allele Identifier: CA16618241
Gene: LAMA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421925
ClinVar RCV Id: RCV000478648
dbSNP Id: rs1064795451
MyVariant Identifiers: chr6:g.129636701del (hg19) chr6:g.129315556del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.129315556del , CM000668.2:g.129315556del GRCh38
NC_000006.11:g.129636701del , CM000668.1:g.129636701del GRCh37
NC_000006.10:g.129678394del NCBI36
NG_008678.1:g.437416del , LRG_409:g.437416del

Transcript Alleles

HGVS Amino-acid change
ENST00000617695.5:c.3636del ENSP00000481744.2:p.Gln1213AsnfsTer11
ENST00000618192.5:c.3900del ENSP00000480802.2:p.Gln1301AsnfsTer11
ENST00000421865.3:c.3636del MANE Select ENSP00000400365.2:p.Gln1213AsnfsTer11
ENST00000421865.2:c.3636del ENSP00000400365.2:p.Gln1213AsnfsTer11
ENST00000617695.4:c.3636del ENSP00000481744.1:p.Gln1213AsnfsTer11
ENST00000618192.4:c.3636del ENSP00000480802.1:p.Gln1213AsnfsTer11
NM_000426.3:c.3636del , LRG_409t1:c.3636del NP_000417.2:p.Gln1213AsnfsTer11
NM_001079823.1:c.3636del NP_001073291.1:p.Gln1213AsnfsTer11
XM_005266981.2:c.3900del XP_005267038.1:p.Gln1301AsnfsTer11
XM_005266982.2:c.3900del XP_005267039.1:p.Gln1301AsnfsTer11
XM_011535820.1:c.3900del XP_011534122.1:p.Gln1301AsnfsTer11
XM_005266981.3:c.3900del XP_005267038.1:p.Gln1301AsnfsTer11
XM_005266982.3:c.3900del XP_005267039.1:p.Gln1301AsnfsTer11
XM_011535820.2:c.3900del XP_011534122.1:p.Gln1301AsnfsTer11
XM_017010851.2:c.3906del XP_016866340.1:p.Gln1303AsnfsTer11
XM_017010852.1:c.2031del XP_016866341.1:p.Gln678AsnfsTer11
XM_017010853.1:c.3900del XP_016866342.1:p.Gln1301AsnfsTer11
NM_000426.4:c.3636del MANE Select NP_000417.3:p.Gln1213AsnfsTer11
NM_001079823.2:c.3636del NP_001073291.2:p.Gln1213AsnfsTer11
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