Canonical Allele Identifier: CA346096252

Gene: HADHB

Linked Data

• MyVariant Identifiers: chr2:g.26508297A>C (hg19) ; chr2:g.26285429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285429A>C , CM000664.2:g.26285429A>C	GRCh38
NC_000002.11:g.26508297A>C , CM000664.1:g.26508297A>C	GRCh37
NC_000002.10:g.26361801A>C	NCBI36
NG_007294.1:g.45477A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1247A>C MANE Select	ENSP00000325136.5:p.Lys416Thr
ENST00000317799.9:c.1247A>C	ENSP00000325136.5:p.Lys416Thr
ENST00000405867.7:c.878A>C	ENSP00000385411.3:p.Lys293Thr
ENST00000494615.1:n.2194A>C
ENST00000537713.5:c.1202A>C	ENSP00000444295.1:p.Lys401Thr
ENST00000545822.2:c.1181A>C	ENSP00000442665.1:p.Lys394Thr
NM_000183.2:c.1247A>C	NP_000174.1:p.Lys416Thr
NM_001281512.1:c.1202A>C	NP_001268441.1:p.Lys401Thr
NM_001281513.1:c.1181A>C	NP_001268442.1:p.Lys394Thr
XM_011532803.1:c.1247A>C	XP_011531105.1:p.Lys416Thr
XM_011532804.1:c.1181A>C	XP_011531106.1:p.Lys394Thr
XM_024452830.1:c.1217A>C	XP_024308598.1:p.Lys406Thr
XM_024452831.1:c.1181A>C	XP_024308599.1:p.Lys394Thr
NM_000183.3:c.1247A>C MANE Select	NP_000174.1:p.Lys416Thr
NM_001281513.2:c.1181A>C	NP_001268442.1:p.Lys394Thr
NM_001281512.2:c.1202A>C	NP_001268441.1:p.Lys401Thr