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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:
CA969306686
Gene: B2M
HGNC
NCBI
PATL2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2086858580
gnomAD v3:
15-44711397-G-C
gnomAD v4:
15-44711397-G-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.44711397G>C , CM000677.2:g.44711397G>C
GRCh38
NC_000015.9:g.45003595G>C , CM000677.1:g.45003595G>C
GRCh37
NC_000015.8:g.42790887G>C
NCBI36
NG_012920.1:g.4911G>C
NG_012920.2:g.4921G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000695792.1:n.40G>C
(B2M)
XM_011521338.3:c.-631C>G
(PATL2)
XP_011519640.1:n.-631C>G
XM_011521339.3:c.-512C>G
(PATL2)
XP_011519641.1:n.-512C>G
XM_011521340.3:c.-453C>G
(PATL2)
XP_011519642.1:n.-453C>G
XM_011521343.3:c.-715C>G
(PATL2)
XP_011519645.1:n.-715C>G
XM_011521345.3:c.-686C>G
(PATL2)
XP_011519647.1:n.-686C>G
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