Canonical Allele Identifier: CA345988257
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21006945-T-C
MyVariant Identifiers: chr2:g.21229817T>C (hg19) chr2:g.21006945T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21006945T>C , CM000664.2:g.21006945T>C GRCh38
NC_000002.11:g.21229817T>C , CM000664.1:g.21229817T>C GRCh37
NC_000002.10:g.21083322T>C NCBI36
NG_011793.1:g.42129A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.9923A>G MANE Select ENSP00000233242.1:p.His3308Arg
ENST00000616098.4:c.9923A>G ENSP00000477990.1:p.His3308Arg
NM_000384.2:c.9923A>G NP_000375.2:p.His3308Arg
XM_011532809.1:c.5869+3788A>G XP_011531111.1:n.5869+3788A>G
NM_000384.3:c.9923A>G MANE Select NP_000375.3:p.His3308Arg
Search 100 bp 5'
Search 100 bp 3'