Canonical Allele Identifier: CA1546522
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs747550861
ExAC: 2:21225072 C / CT
gnomAD v2: 2-21225072-C-CT
gnomAD v3: 2-21002200-C-CT
gnomAD v4: 2-21002200-C-CT
MyVariant Identifiers: chr2:g.21225072_21225073insT (hg19) chr2:g.21002200_21002201insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002201dup , CM000664.2:g.21002201dup GRCh38
NC_000002.11:g.21225073dup , CM000664.1:g.21225073dup GRCh37
NC_000002.10:g.21078578dup NCBI36
NG_011793.1:g.46873dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13221dup MANE Select ENSP00000233242.1:p.Val4408SerfsTer12
ENST00000616098.4:c.13219dup ENSP00000477990.1:n.13219dup
NM_000384.2:c.13221dup NP_000375.2:p.Val4408SerfsTer12
XM_011532809.1:c.5870-2928dup XP_011531111.1:n.5870-2928dup
NM_000384.3:c.13221dup MANE Select NP_000375.3:p.Val4408SerfsTer12
Search 100 bp 5'
Search 100 bp 3'