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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:
CA343669977
Gene: LAMC2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.183177075A>C (hg19)
chr1:g.183207940A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.183207940A>C , CM000663.2:g.183207940A>C
GRCh38
NC_000001.10:g.183177075A>C , CM000663.1:g.183177075A>C
GRCh37
NC_000001.9:g.181443698A>C
NCBI36
NG_007079.2:g.26677A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000264144.5:c.139A>C
MANE Select
ENSP00000264144.4:p.Thr47Pro
ENST00000264144.4:c.139A>C
ENSP00000264144.4:p.Thr47Pro
ENST00000493293.5:c.139A>C
ENSP00000432063.1:p.Thr47Pro
NM_005562.2:c.139A>C
NP_005553.2:p.Thr47Pro
NM_018891.2:c.139A>C
NP_061486.2:p.Thr47Pro
XM_017001273.2:c.139A>C
XP_016856762.1:p.Thr47Pro
NM_005562.3:c.139A>C
MANE Select
NP_005553.2:p.Thr47Pro
NM_018891.3:c.139A>C
NP_061486.2:p.Thr47Pro
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