Canonical Allele Identifier: CA058790

Gene: APOB

Linked Data

• dbSNP Id: rs778822926
• ExAC: 2:21238335 C / A
• gnomAD v2: 2-21238335-C-A
• gnomAD v4: 2-21015463-C-A
• MyVariant Identifiers: chr2:g.21238335C>A (hg19) ; chr2:g.21015463C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.21015463C>A , CM000664.2:g.21015463C>A	GRCh38
NC_000002.11:g.21238335C>A , CM000664.1:g.21238335C>A	GRCh37
NC_000002.10:g.21091840C>A	NCBI36
NG_011793.1:g.33611G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000673739.2:c.*2721G>T	ENSP00000501110.2:n.*2721G>T
ENST00000673882.2:c.*2510G>T	ENSP00000501253.2:n.*2510G>T
ENST00000673739.1:c.3129G>T	ENSP00000501110.1:n.3129G>T
ENST00000673882.1:c.2918G>T	ENSP00000501253.1:n.2918G>T
ENST00000233242.5:c.3415G>T MANE Select	ENSP00000233242.1:p.Ala1139Ser
ENST00000616098.4:c.3415G>T	ENSP00000477990.1:p.Ala1139Ser
NM_000384.2:c.3415G>T	NP_000375.2:p.Ala1139Ser
XM_011532809.1:c.3415G>T	XP_011531111.1:p.Ala1139Ser
NM_000384.3:c.3415G>T MANE Select	NP_000375.3:p.Ala1139Ser