Canonical Allele Identifier: CA052227
Gene: APOB HGNC NCBI

Linked Data

dbSNP Id: rs780524222
ExAC: 2:21225066 G / GGGAATCT
gnomAD v2: 2-21225066-G-GGGAATCT
MyVariant Identifiers: chr2:g.21225066_21225067insGGAATCT (hg19) chr2:g.21002194_21002195insGGAATCT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21002194_21002195insGGAATCT , CM000664.2:g.21002194_21002195insGGAATCT GRCh38
NC_000002.11:g.21225066_21225067insGGAATCT , CM000664.1:g.21225066_21225067insGGAATCT GRCh37
NC_000002.10:g.21078571_21078572insGGAATCT NCBI36
NG_011793.1:g.46879_46880insAGATTCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000233242.5:c.13227_13228insAGATTCC MANE Select ENSP00000233242.1:p.Leu4410ArgfsTer12
ENST00000616098.4:c.13225_13226insAGATTCC ENSP00000477990.1:n.13225_13226insAGATTCC
NM_000384.2:c.13227_13228insAGATTCC NP_000375.2:p.Leu4410ArgfsTer12
XM_011532809.1:c.5870-2922_5870-2921insAGATTCC XP_011531111.1:n.5870-2922_5870-2921insAGATTCC
NM_000384.3:c.13227_13228insAGATTCC MANE Select NP_000375.3:p.Leu4410ArgfsTer12
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