Canonical Allele Identifier: CA1560518

Gene: HADHB

Linked Data

• ClinVar Variation Id: 1693806
• ClinVar RCV Id: RCV002261675
• dbSNP Id: rs368451226
• ExAC: 2:26508387 G / A
• gnomAD v2: 2-26508387-G-A
• gnomAD v3: 2-26285519-G-A
• gnomAD v4: 2-26285519-G-A
• COSMIC: COSM2912221 ; COSM4312258
• MyVariant Identifiers: chr2:g.26508387G>A (hg19) ; chr2:g.26285519G>A (hg38)
• PubMed: PMID:25363768

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285519G>A , CM000664.2:g.26285519G>A	GRCh38
NC_000002.11:g.26508387G>A , CM000664.1:g.26508387G>A	GRCh37
NC_000002.10:g.26361891G>A	NCBI36
NG_007294.1:g.45567G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1337G>A MANE Select	ENSP00000325136.5:p.Arg446Gln
ENST00000317799.9:c.1337G>A	ENSP00000325136.5:p.Arg446Gln
ENST00000405867.7:c.968G>A	ENSP00000385411.3:p.Arg323Gln
ENST00000494615.1:n.2284G>A
ENST00000537713.5:c.1292G>A	ENSP00000444295.1:p.Arg431Gln
ENST00000545822.2:c.1271G>A	ENSP00000442665.1:p.Arg424Gln
NM_000183.2:c.1337G>A	NP_000174.1:p.Arg446Gln
NM_001281512.1:c.1292G>A	NP_001268441.1:p.Arg431Gln
NM_001281513.1:c.1271G>A	NP_001268442.1:p.Arg424Gln
XM_011532803.1:c.1337G>A	XP_011531105.1:p.Arg446Gln
XM_011532804.1:c.1271G>A	XP_011531106.1:p.Arg424Gln
XM_024452830.1:c.1307G>A	XP_024308598.1:p.Arg436Gln
XM_024452831.1:c.1271G>A	XP_024308599.1:p.Arg424Gln
NM_000183.3:c.1337G>A MANE Select	NP_000174.1:p.Arg446Gln
NM_001281513.2:c.1271G>A	NP_001268442.1:p.Arg424Gln
NM_001281512.2:c.1292G>A	NP_001268441.1:p.Arg431Gln