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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:
CA043011
Gene: APOB
HGNC
NCBI
Linked Data
ClinVar Variation Id:
896639
ClinVar RCV Id:
RCV001139433
RCV001139434
RCV003769666
dbSNP Id:
rs764056784
ExAC:
2:21229457 G / T
gnomAD v2:
2-21229457-G-T
gnomAD v4:
2-21006585-G-T
MyVariant Identifiers:
chr2:g.21229457G>T (hg19)
chr2:g.21006585G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.21006585G>T , CM000664.2:g.21006585G>T
GRCh38
NC_000002.11:g.21229457G>T , CM000664.1:g.21229457G>T
GRCh37
NC_000002.10:g.21082962G>T
NCBI36
NG_011793.1:g.42489C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000233242.5:c.10283C>A
MANE Select
ENSP00000233242.1:p.Thr3428Asn
ENST00000616098.4:c.10283C>A
ENSP00000477990.1:p.Thr3428Asn
NM_000384.2:c.10283C>A
NP_000375.2:p.Thr3428Asn
XM_011532809.1:c.5869+4148C>A
XP_011531111.1:n.5869+4148C>A
NM_000384.3:c.10283C>A
MANE Select
NP_000375.3:p.Thr3428Asn
Search 100 bp 5'
Search 100 bp 3'