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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:
CA2044676
Gene: MARS2
HGNC
NCBI
Linked Data
dbSNP Id:
rs759306911
ExAC:
2:198571145 C / A
gnomAD v2:
2-198571145-C-A
gnomAD v4:
2-197706421-C-A
COSMIC:
COSM6202534
MyVariant Identifiers:
chr2:g.198571145C>A (hg19)
chr2:g.197706421C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.197706421C>A , CM000664.2:g.197706421C>A
GRCh38
NC_000002.11:g.198571145C>A , CM000664.1:g.198571145C>A
GRCh37
NC_000002.10:g.198279390C>A
NCBI36
NG_034122.1:g.6118C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000282276.8:c.1016C>A
MANE Select
ENSP00000282276.6:p.Ser339Tyr
ENST00000282276.7:c.1016C>A
ENSP00000282276.6:p.Ser339Tyr
NM_138395.3:c.1016C>A
NP_612404.1:p.Ser339Tyr
NM_138395.4:c.1016C>A
MANE Select
NP_612404.1:p.Ser339Tyr
Search 100 bp 5'
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