Canonical Allele Identifier: CA345968686
Gene: APOB HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.21225114C>G (hg19) chr2:g.21002242C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002242C>G , CM000664.2:g.21002242C>G GRCh38
NC_000002.11:g.21225114C>G , CM000664.1:g.21225114C>G GRCh37
NC_000002.10:g.21078619C>G NCBI36
NG_011793.1:g.46832G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13180G>C MANE Select ENSP00000233242.1:p.Val4394Leu
ENST00000616098.4:c.13178G>C ENSP00000477990.1:n.13178G>C
NM_000384.2:c.13180G>C NP_000375.2:p.Val4394Leu
XM_011532809.1:c.5870-2969G>C XP_011531111.1:n.5870-2969G>C
NM_000384.3:c.13180G>C MANE Select NP_000375.3:p.Val4394Leu
Search 100 bp 5'
Search 100 bp 3'