Canonical Allele Identifier: CA1560431

Gene: HADHB

Linked Data

• dbSNP Id: rs781562716
• ExAC: 2:26505940 T / C
• gnomAD v2: 2-26505940-T-C
• gnomAD v4: 2-26283072-T-C
• MyVariant Identifiers: chr2:g.26505940T>C (hg19) ; chr2:g.26283072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26283072T>C , CM000664.2:g.26283072T>C	GRCh38
NC_000002.11:g.26505940T>C , CM000664.1:g.26505940T>C	GRCh37
NC_000002.10:g.26359444T>C	NCBI36
NG_007294.1:g.43120T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000317799.10:c.1061+21T>C MANE Select	ENSP00000325136.5:n.1061+21T>C
ENST00000317799.9:c.1061+21T>C	ENSP00000325136.5:n.1061+21T>C
ENST00000405867.7:c.692+21T>C	ENSP00000385411.3:n.692+21T>C
ENST00000494615.1:n.2008+21T>C
ENST00000537713.5:c.1016+21T>C	ENSP00000444295.1:n.1016+21T>C
ENST00000545822.2:c.995+21T>C	ENSP00000442665.1:n.995+21T>C
NM_000183.2:c.1061+21T>C	NP_000174.1:n.1061+21T>C
NM_001281512.1:c.1016+21T>C	NP_001268441.1:n.1016+21T>C
NM_001281513.1:c.995+21T>C	NP_001268442.1:n.995+21T>C
XM_011532803.1:c.1061+21T>C	XP_011531105.1:n.1061+21T>C
XM_011532804.1:c.995+21T>C	XP_011531106.1:n.995+21T>C
XM_024452830.1:c.1031+21T>C	XP_024308598.1:n.1031+21T>C
XM_024452831.1:c.995+21T>C	XP_024308599.1:n.995+21T>C
NM_000183.3:c.1061+21T>C MANE Select	NP_000174.1:n.1061+21T>C
NM_001281513.2:c.995+21T>C	NP_001268442.1:n.995+21T>C
NM_001281512.2:c.1016+21T>C	NP_001268441.1:n.1016+21T>C