Canonical Allele Identifier: CA346094849

Gene: HADHB

Linked Data

• MyVariant Identifiers: chr2:g.26505888T>C (hg19) ; chr2:g.26283020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283020T>C , CM000664.2:g.26283020T>C	GRCh38
NC_000002.11:g.26505888T>C , CM000664.1:g.26505888T>C	GRCh37
NC_000002.10:g.26359392T>C	NCBI36
NG_007294.1:g.43068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1030T>C MANE Select	ENSP00000325136.5:p.Ser344Pro
ENST00000317799.9:c.1030T>C	ENSP00000325136.5:p.Ser344Pro
ENST00000405867.7:c.661T>C	ENSP00000385411.3:p.Ser221Pro
ENST00000494615.1:n.1977T>C
ENST00000537713.5:c.985T>C	ENSP00000444295.1:p.Ser329Pro
ENST00000545822.2:c.964T>C	ENSP00000442665.1:p.Ser322Pro
NM_000183.2:c.1030T>C	NP_000174.1:p.Ser344Pro
NM_001281512.1:c.985T>C	NP_001268441.1:p.Ser329Pro
NM_001281513.1:c.964T>C	NP_001268442.1:p.Ser322Pro
XM_011532803.1:c.1030T>C	XP_011531105.1:p.Ser344Pro
XM_011532804.1:c.964T>C	XP_011531106.1:p.Ser322Pro
XM_024452830.1:c.1000T>C	XP_024308598.1:p.Ser334Pro
XM_024452831.1:c.964T>C	XP_024308599.1:p.Ser322Pro
NM_000183.3:c.1030T>C MANE Select	NP_000174.1:p.Ser344Pro
NM_001281513.2:c.964T>C	NP_001268442.1:p.Ser322Pro
NM_001281512.2:c.985T>C	NP_001268441.1:p.Ser329Pro