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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:
CA368269932
Gene: LMTK2
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr7:g.97816247A>C (hg19)
chr7:g.98186935A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.98186935A>C , CM000669.2:g.98186935A>C
GRCh38
NC_000007.13:g.97816247A>C , CM000669.1:g.97816247A>C
GRCh37
NC_000007.12:g.97654183A>C
NCBI36
NG_013375.1:g.85051A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000297293.6:c.935A>C
MANE Select
ENSP00000297293.5:p.Glu312Ala
ENST00000297293.5:c.935A>C
ENSP00000297293.5:p.Glu312Ala
NM_014916.3:c.935A>C
NP_055731.2:p.Glu312Ala
XM_011515981.1:c.929A>C
XP_011514283.1:p.Glu310Ala
XM_011515981.3:c.929A>C
XP_011514283.1:p.Glu310Ala
NM_014916.4:c.935A>C
MANE Select
NP_055731.2:p.Glu312Ala
Search 100 bp 5'
Search 100 bp 3'