Canonical Allele Identifier: CA345970709
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs568054660
gnomAD v2: 2-21225615-C-G
gnomAD v4: 2-21002743-C-G
MyVariant Identifiers: chr2:g.21225615C>G (hg19) chr2:g.21002743C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002743C>G , CM000664.2:g.21002743C>G GRCh38
NC_000002.11:g.21225615C>G , CM000664.1:g.21225615C>G GRCh37
NC_000002.10:g.21079120C>G NCBI36
NG_011793.1:g.46331G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.12679G>C MANE Select ENSP00000233242.1:p.Val4227Leu
ENST00000616098.4:c.12679G>C ENSP00000477990.1:p.Val4227Leu
NM_000384.2:c.12679G>C NP_000375.2:p.Val4227Leu
XM_011532809.1:c.5870-3470G>C XP_011531111.1:n.5870-3470G>C
NM_000384.3:c.12679G>C MANE Select NP_000375.3:p.Val4227Leu
Search 100 bp 5'
Search 100 bp 3'