Canonical Allele Identifier: CA43506230
Gene: APOB HGNC NCBI

Linked Data

ClinVar Variation Id: 2937495
ClinVar RCV Id: RCV003794125
dbSNP Id: rs986986719
gnomAD v2: 2-21233902-G-T
gnomAD v3: 2-21011030-G-T
gnomAD v4: 2-21011030-G-T
MyVariant Identifiers: chr2:g.21233902G>T (hg19) chr2:g.21011030G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21011030G>T , CM000664.2:g.21011030G>T GRCh38
NC_000002.11:g.21233902G>T , CM000664.1:g.21233902G>T GRCh37
NC_000002.10:g.21087407G>T NCBI36
NG_011793.1:g.38044C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.5838C>A MANE Select ENSP00000233242.1:p.Tyr1946Ter
ENST00000616098.4:c.5838C>A ENSP00000477990.1:p.Tyr1946Ter
NM_000384.2:c.5838C>A NP_000375.2:p.Tyr1946Ter
XM_011532809.1:c.5838C>A XP_011531111.1:p.Tyr1946Ter
NM_000384.3:c.5838C>A MANE Select NP_000375.3:p.Tyr1946Ter
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