Canonical Allele Identifier: CA346095123

Gene: HADHB

Linked Data

• dbSNP Id: rs2147830140
• MyVariant Identifiers: chr2:g.26505914A>C (hg19) ; chr2:g.26283046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283046A>C , CM000664.2:g.26283046A>C	GRCh38
NC_000002.11:g.26505914A>C , CM000664.1:g.26505914A>C	GRCh37
NC_000002.10:g.26359418A>C	NCBI36
NG_007294.1:g.43094A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1056A>C MANE Select	ENSP00000325136.5:p.Leu352Phe
ENST00000317799.9:c.1056A>C	ENSP00000325136.5:p.Leu352Phe
ENST00000405867.7:c.687A>C	ENSP00000385411.3:p.Leu229Phe
ENST00000494615.1:n.2003A>C
ENST00000537713.5:c.1011A>C	ENSP00000444295.1:p.Leu337Phe
ENST00000545822.2:c.990A>C	ENSP00000442665.1:p.Leu330Phe
NM_000183.2:c.1056A>C	NP_000174.1:p.Leu352Phe
NM_001281512.1:c.1011A>C	NP_001268441.1:p.Leu337Phe
NM_001281513.1:c.990A>C	NP_001268442.1:p.Leu330Phe
XM_011532803.1:c.1056A>C	XP_011531105.1:p.Leu352Phe
XM_011532804.1:c.990A>C	XP_011531106.1:p.Leu330Phe
XM_024452830.1:c.1026A>C	XP_024308598.1:p.Leu342Phe
XM_024452831.1:c.990A>C	XP_024308599.1:p.Leu330Phe
NM_000183.3:c.1056A>C MANE Select	NP_000174.1:p.Leu352Phe
NM_001281513.2:c.990A>C	NP_001268442.1:p.Leu330Phe
NM_001281512.2:c.1011A>C	NP_001268441.1:p.Leu337Phe