Canonical Allele Identifier: CA346096884

Gene: HADHB

Linked Data

• gnomAD v4: 2-26285518-C-G
• MyVariant Identifiers: chr2:g.26508386C>G (hg19) ; chr2:g.26285518C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285518C>G , CM000664.2:g.26285518C>G	GRCh38
NC_000002.11:g.26508386C>G , CM000664.1:g.26508386C>G	GRCh37
NC_000002.10:g.26361890C>G	NCBI36
NG_007294.1:g.45566C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1336C>G MANE Select	ENSP00000325136.5:p.Arg446Gly
ENST00000317799.9:c.1336C>G	ENSP00000325136.5:p.Arg446Gly
ENST00000405867.7:c.967C>G	ENSP00000385411.3:p.Arg323Gly
ENST00000494615.1:n.2283C>G
ENST00000537713.5:c.1291C>G	ENSP00000444295.1:p.Arg431Gly
ENST00000545822.2:c.1270C>G	ENSP00000442665.1:p.Arg424Gly
NM_000183.2:c.1336C>G	NP_000174.1:p.Arg446Gly
NM_001281512.1:c.1291C>G	NP_001268441.1:p.Arg431Gly
NM_001281513.1:c.1270C>G	NP_001268442.1:p.Arg424Gly
XM_011532803.1:c.1336C>G	XP_011531105.1:p.Arg446Gly
XM_011532804.1:c.1270C>G	XP_011531106.1:p.Arg424Gly
XM_024452830.1:c.1306C>G	XP_024308598.1:p.Arg436Gly
XM_024452831.1:c.1270C>G	XP_024308599.1:p.Arg424Gly
NM_000183.3:c.1336C>G MANE Select	NP_000174.1:p.Arg446Gly
NM_001281513.2:c.1270C>G	NP_001268442.1:p.Arg424Gly
NM_001281512.2:c.1291C>G	NP_001268441.1:p.Arg431Gly