Canonical Allele Identifier: CA425341444
Gene: APOB HGNC NCBI

Linked Data

gnomAD v4: 2-21001745-A-G
MyVariant Identifiers: chr2:g.21224617A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21001745A>G , CM000664.2:g.21001745A>G GRCh38
NC_000002.11:g.21224617A>G , CM000664.1:g.21224617A>G GRCh37
NC_000002.10:g.21078122A>G NCBI36
NG_011793.1:g.47329T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13677T>C MANE Select ENSP00000233242.1:p.Leu4559=
ENST00000616098.4:c.13675T>C ENSP00000477990.1:n.13675T>C
NM_000384.2:c.13677T>C NP_000375.2:p.Leu4559=
XM_011532809.1:c.5870-2472T>C XP_011531111.1:n.5870-2472T>C
NM_000384.3:c.13677T>C MANE Select NP_000375.3:p.Leu4559=