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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:
CA368269920
Gene: LMTK2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2116452009
MyVariant Identifiers:
chr7:g.97816243C>T (hg19)
chr7:g.98186931C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.98186931C>T , CM000669.2:g.98186931C>T
GRCh38
NC_000007.13:g.97816243C>T , CM000669.1:g.97816243C>T
GRCh37
NC_000007.12:g.97654179C>T
NCBI36
NG_013375.1:g.85047C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000297293.6:c.931C>T
MANE Select
ENSP00000297293.5:p.Pro311Ser
ENST00000297293.5:c.931C>T
ENSP00000297293.5:p.Pro311Ser
NM_014916.3:c.931C>T
NP_055731.2:p.Pro311Ser
XM_011515981.1:c.925C>T
XP_011514283.1:p.Pro309Ser
XM_011515981.3:c.925C>T
XP_011514283.1:p.Pro309Ser
NM_014916.4:c.931C>T
MANE Select
NP_055731.2:p.Pro311Ser
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