Canonical Allele Identifier: CA057436
Gene: APOB HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.21019858G>A
GRCh37 chr2:g.21242730G>A
Revel Score:
ENST00000233242 (MANE Select) 0.123
ENST00000535079 0.123
gnomAD v2:
2:21242730 G / A
gnomAD v3:
2:21019858 G / A
gnomAD v4:
chr2-21019858-G-A
Joint Max Group AF 0.00000247 (NFE)
Exomes Max Group AF 0.00000194 (NFE)
ClinVar Allele:
908447
ClinVar RCV:
RCV001875825
RCV002261297
RCV002436736
ClinVar Variation:
918926
dbSNP:
763052786
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.21019858G>A , CM000664.2:g.21019858G>A GRCh38
NC_000002.11:g.21242730G>A , CM000664.1:g.21242730G>A GRCh37
NC_000002.10:g.21096235G>A NCBI36
NG_011793.1:g.29216C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000673739.2:c.*2170C>T ENSP00000501110.2:n.*2170C>T
ENST00000673882.2:c.*2170C>T ENSP00000501253.2:n.*2170C>T
ENST00000673739.1:c.2578C>T ENSP00000501110.1:n.2578C>T
ENST00000673882.1:c.2578C>T ENSP00000501253.1:n.2578C>T
ENST00000233242.5:c.2864C>T MANE Select ENSP00000233242.1:p.Pro955Leu
ENST00000616098.4:c.2864C>T ENSP00000477990.1:p.Pro955Leu
NM_000384.2:c.2864C>T NP_000375.2:p.Pro955Leu
XM_011532809.1:c.2864C>T XP_011531111.1:p.Pro955Leu
NM_000384.3:c.2864C>T MANE Select NP_000375.3:p.Pro955Leu
Search 100 bp 5'
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