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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA343660233
Gene: LAMC2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.183209190A>G (hg19)
chr1:g.183240055A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183240055A>G , CM000663.2:g.183240055A>G
GRCh38
NC_000001.10:g.183209190A>G , CM000663.1:g.183209190A>G
GRCh37
NC_000001.9:g.181475813A>G
NCBI36
NG_007079.2:g.58792A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000264144.5:c.3085A>G
MANE Select
ENSP00000264144.4:p.Asn1029Asp
ENST00000264144.4:c.3085A>G
ENSP00000264144.4:p.Asn1029Asp
ENST00000461729.1:n.555A>G
ENST00000493293.5:c.3085A>G
ENSP00000432063.1:p.Asn1029Asp
NM_005562.2:c.3085A>G
NP_005553.2:p.Asn1029Asp
NM_018891.2:c.3085A>G
NP_061486.2:p.Asn1029Asp
NM_005562.3:c.3085A>G
MANE Select
NP_005553.2:p.Asn1029Asp
NM_018891.3:c.3085A>G
NP_061486.2:p.Asn1029Asp
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