Canonical Allele Identifier: CA346002286
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs1166414133
gnomAD v2: 2-21233529-G-A
gnomAD v3: 2-21010657-G-A
gnomAD v4: 2-21010657-G-A
MyVariant Identifiers: chr2:g.21233529G>A (hg19) chr2:g.21010657G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21010657G>A , CM000664.2:g.21010657G>A GRCh38
NC_000002.11:g.21233529G>A , CM000664.1:g.21233529G>A GRCh37
NC_000002.10:g.21087034G>A NCBI36
NG_011793.1:g.38417C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.6211C>T MANE Select ENSP00000233242.1:p.Leu2071Phe
ENST00000616098.4:c.6211C>T ENSP00000477990.1:p.Leu2071Phe
NM_000384.2:c.6211C>T NP_000375.2:p.Leu2071Phe
XM_011532809.1:c.5869+76C>T XP_011531111.1:n.5869+76C>T
NM_000384.3:c.6211C>T MANE Select NP_000375.3:p.Leu2071Phe
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