Canonical Allele Identifier: CA345989247
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2931110
ClinVar RCV Id: RCV003782372
gnomAD v4: 2-21007200-T-C
MyVariant Identifiers: chr2:g.21230072T>C (hg19) chr2:g.21007200T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21007200T>C , CM000664.2:g.21007200T>C GRCh38
NC_000002.11:g.21230072T>C , CM000664.1:g.21230072T>C GRCh37
NC_000002.10:g.21083577T>C NCBI36
NG_011793.1:g.41874A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000233242.5:c.9668A>G MANE Select ENSP00000233242.1:p.Tyr3223Cys
ENST00000616098.4:c.9668A>G ENSP00000477990.1:p.Tyr3223Cys
NM_000384.2:c.9668A>G NP_000375.2:p.Tyr3223Cys
XM_011532809.1:c.5869+3533A>G XP_011531111.1:n.5869+3533A>G
NM_000384.3:c.9668A>G MANE Select NP_000375.3:p.Tyr3223Cys
Search 100 bp 5'
Search 100 bp 3'