Canonical Allele Identifier: CA346096227

Gene: HADHB

Linked Data

• COSMIC: COSM1631940
• MyVariant Identifiers: chr2:g.26508285C>G (hg19) ; chr2:g.26285417C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285417C>G , CM000664.2:g.26285417C>G	GRCh38
NC_000002.11:g.26508285C>G , CM000664.1:g.26508285C>G	GRCh37
NC_000002.10:g.26361789C>G	NCBI36
NG_007294.1:g.45465C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1235C>G MANE Select	ENSP00000325136.5:p.Pro412Arg
ENST00000317799.9:c.1235C>G	ENSP00000325136.5:p.Pro412Arg
ENST00000405867.7:c.866C>G	ENSP00000385411.3:p.Pro289Arg
ENST00000494615.1:n.2182C>G
ENST00000537713.5:c.1190C>G	ENSP00000444295.1:p.Pro397Arg
ENST00000545822.2:c.1169C>G	ENSP00000442665.1:p.Pro390Arg
NM_000183.2:c.1235C>G	NP_000174.1:p.Pro412Arg
NM_001281512.1:c.1190C>G	NP_001268441.1:p.Pro397Arg
NM_001281513.1:c.1169C>G	NP_001268442.1:p.Pro390Arg
XM_011532803.1:c.1235C>G	XP_011531105.1:p.Pro412Arg
XM_011532804.1:c.1169C>G	XP_011531106.1:p.Pro390Arg
XM_024452830.1:c.1205C>G	XP_024308598.1:p.Pro402Arg
XM_024452831.1:c.1169C>G	XP_024308599.1:p.Pro390Arg
NM_000183.3:c.1235C>G MANE Select	NP_000174.1:p.Pro412Arg
NM_001281513.2:c.1169C>G	NP_001268442.1:p.Pro390Arg
NM_001281512.2:c.1190C>G	NP_001268441.1:p.Pro397Arg