Canonical Allele Identifier: CA346096807

Gene: HADHB

Linked Data

• gnomAD v4: 2-26285480-C-G
• MyVariant Identifiers: chr2:g.26508348C>G (hg19) ; chr2:g.26285480C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285480C>G , CM000664.2:g.26285480C>G	GRCh38
NC_000002.11:g.26508348C>G , CM000664.1:g.26508348C>G	GRCh37
NC_000002.10:g.26361852C>G	NCBI36
NG_007294.1:g.45528C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1298C>G MANE Select	ENSP00000325136.5:p.Thr433Ser
ENST00000317799.9:c.1298C>G	ENSP00000325136.5:p.Thr433Ser
ENST00000405867.7:c.929C>G	ENSP00000385411.3:p.Thr310Ser
ENST00000494615.1:n.2245C>G
ENST00000537713.5:c.1253C>G	ENSP00000444295.1:p.Thr418Ser
ENST00000545822.2:c.1232C>G	ENSP00000442665.1:p.Thr411Ser
NM_000183.2:c.1298C>G	NP_000174.1:p.Thr433Ser
NM_001281512.1:c.1253C>G	NP_001268441.1:p.Thr418Ser
NM_001281513.1:c.1232C>G	NP_001268442.1:p.Thr411Ser
XM_011532803.1:c.1298C>G	XP_011531105.1:p.Thr433Ser
XM_011532804.1:c.1232C>G	XP_011531106.1:p.Thr411Ser
XM_024452830.1:c.1268C>G	XP_024308598.1:p.Thr423Ser
XM_024452831.1:c.1232C>G	XP_024308599.1:p.Thr411Ser
NM_000183.3:c.1298C>G MANE Select	NP_000174.1:p.Thr433Ser
NM_001281513.2:c.1232C>G	NP_001268442.1:p.Thr411Ser
NM_001281512.2:c.1253C>G	NP_001268441.1:p.Thr418Ser