Canonical Allele Identifier: CA346092952

Gene: HADHB

Linked Data

• gnomAD v4: 2-26279193-T-C
• MyVariant Identifiers: chr2:g.26502061T>C (hg19) ; chr2:g.26279193T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26279193T>C , CM000664.2:g.26279193T>C	GRCh38
NC_000002.11:g.26502061T>C , CM000664.1:g.26502061T>C	GRCh37
NC_000002.10:g.26355565T>C	NCBI36
NG_007294.1:g.39241T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.689T>C MANE Select	ENSP00000325136.5:p.Leu230Pro
ENST00000317799.9:c.689T>C	ENSP00000325136.5:p.Leu230Pro
ENST00000405867.7:c.443-801T>C	ENSP00000385411.3:n.443-801T>C
ENST00000494615.1:n.1636T>C
ENST00000537713.5:c.644T>C	ENSP00000444295.1:p.Leu215Pro
ENST00000545822.2:c.623T>C	ENSP00000442665.1:p.Leu208Pro
NM_000183.2:c.689T>C	NP_000174.1:p.Leu230Pro
NM_001281512.1:c.644T>C	NP_001268441.1:p.Leu215Pro
NM_001281513.1:c.623T>C	NP_001268442.1:p.Leu208Pro
XM_011532803.1:c.689T>C	XP_011531105.1:p.Leu230Pro
XM_011532804.1:c.623T>C	XP_011531106.1:p.Leu208Pro
XM_024452830.1:c.659T>C	XP_024308598.1:p.Leu220Pro
XM_024452831.1:c.623T>C	XP_024308599.1:p.Leu208Pro
NM_000183.3:c.689T>C MANE Select	NP_000174.1:p.Leu230Pro
NM_001281513.2:c.623T>C	NP_001268442.1:p.Leu208Pro
NM_001281512.2:c.644T>C	NP_001268441.1:p.Leu215Pro