Canonical Allele Identifier: CA345967138
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 431504
ClinVar RCV Id: RCV000497135
dbSNP Id: rs546806987
MyVariant Identifiers: chr2:g.21224739T>C (hg19) chr2:g.21001867T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001867T>C , CM000664.2:g.21001867T>C GRCh38
NC_000002.11:g.21224739T>C , CM000664.1:g.21224739T>C GRCh37
NC_000002.10:g.21078244T>C NCBI36
NG_011793.1:g.47207A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13555A>G MANE Select ENSP00000233242.1:p.Arg4519Gly
ENST00000616098.4:c.13553A>G ENSP00000477990.1:n.13553A>G
NM_000384.2:c.13555A>G NP_000375.2:p.Arg4519Gly
XM_011532809.1:c.5870-2594A>G XP_011531111.1:n.5870-2594A>G
NM_000384.3:c.13555A>G MANE Select NP_000375.3:p.Arg4519Gly
Search 100 bp 5'
Search 100 bp 3'