Canonical Allele Identifier: CA44342947

Gene: HADHB

Linked Data

• ClinVar Variation Id: 894831
• ClinVar RCV Id: RCV001136588
• dbSNP Id: rs971767907
• gnomAD v2: 2-26508393-A-G
• gnomAD v3: 2-26285525-A-G
• gnomAD v4: 2-26285525-A-G
• MyVariant Identifiers: chr2:g.26508393A>G (hg19) ; chr2:g.26285525A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285525A>G , CM000664.2:g.26285525A>G	GRCh38
NC_000002.11:g.26508393A>G , CM000664.1:g.26508393A>G	GRCh37
NC_000002.10:g.26361897A>G	NCBI36
NG_007294.1:g.45573A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1343A>G MANE Select	ENSP00000325136.5:p.Glu448Gly
ENST00000317799.9:c.1343A>G	ENSP00000325136.5:p.Glu448Gly
ENST00000405867.7:c.974A>G	ENSP00000385411.3:p.Glu325Gly
ENST00000494615.1:n.2290A>G
ENST00000537713.5:c.1298A>G	ENSP00000444295.1:p.Glu433Gly
ENST00000545822.2:c.1277A>G	ENSP00000442665.1:p.Glu426Gly
NM_000183.2:c.1343A>G	NP_000174.1:p.Glu448Gly
NM_001281512.1:c.1298A>G	NP_001268441.1:p.Glu433Gly
NM_001281513.1:c.1277A>G	NP_001268442.1:p.Glu426Gly
XM_011532803.1:c.1343A>G	XP_011531105.1:p.Glu448Gly
XM_011532804.1:c.1277A>G	XP_011531106.1:p.Glu426Gly
XM_024452830.1:c.1313A>G	XP_024308598.1:p.Glu438Gly
XM_024452831.1:c.1277A>G	XP_024308599.1:p.Glu426Gly
NM_000183.3:c.1343A>G MANE Select	NP_000174.1:p.Glu448Gly
NM_001281513.2:c.1277A>G	NP_001268442.1:p.Glu426Gly
NM_001281512.2:c.1298A>G	NP_001268441.1:p.Glu433Gly