Canonical Allele Identifier: CA346094842

Gene: HADHB

Linked Data

• dbSNP Id: rs1436467631
• gnomAD v2: 2-26505886-T-G
• gnomAD v4: 2-26283018-T-G
• MyVariant Identifiers: chr2:g.26505886T>G (hg19) ; chr2:g.26283018T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283018T>G , CM000664.2:g.26283018T>G	GRCh38
NC_000002.11:g.26505886T>G , CM000664.1:g.26505886T>G	GRCh37
NC_000002.10:g.26359390T>G	NCBI36
NG_007294.1:g.43066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1028T>G MANE Select	ENSP00000325136.5:p.Val343Gly
ENST00000317799.9:c.1028T>G	ENSP00000325136.5:p.Val343Gly
ENST00000405867.7:c.659T>G	ENSP00000385411.3:p.Val220Gly
ENST00000494615.1:n.1975T>G
ENST00000537713.5:c.983T>G	ENSP00000444295.1:p.Val328Gly
ENST00000545822.2:c.962T>G	ENSP00000442665.1:p.Val321Gly
NM_000183.2:c.1028T>G	NP_000174.1:p.Val343Gly
NM_001281512.1:c.983T>G	NP_001268441.1:p.Val328Gly
NM_001281513.1:c.962T>G	NP_001268442.1:p.Val321Gly
XM_011532803.1:c.1028T>G	XP_011531105.1:p.Val343Gly
XM_011532804.1:c.962T>G	XP_011531106.1:p.Val321Gly
XM_024452830.1:c.998T>G	XP_024308598.1:p.Val333Gly
XM_024452831.1:c.962T>G	XP_024308599.1:p.Val321Gly
NM_000183.3:c.1028T>G MANE Select	NP_000174.1:p.Val343Gly
NM_001281513.2:c.962T>G	NP_001268442.1:p.Val321Gly
NM_001281512.2:c.983T>G	NP_001268441.1:p.Val328Gly