Canonical Allele Identifier: CA346096879

Gene: HADHB

Linked Data

• ClinVar Variation Id: 2675984
• ClinVar RCV Id: RCV003461723
• MyVariant Identifiers: chr2:g.26508384T>G (hg19) ; chr2:g.26285516T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26285516T>G , CM000664.2:g.26285516T>G	GRCh38
NC_000002.11:g.26508384T>G , CM000664.1:g.26508384T>G	GRCh37
NC_000002.10:g.26361888T>G	NCBI36
NG_007294.1:g.45564T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000317799.10:c.1334T>G MANE Select	ENSP00000325136.5:p.Leu445Ter
ENST00000317799.9:c.1334T>G	ENSP00000325136.5:p.Leu445Ter
ENST00000405867.7:c.965T>G	ENSP00000385411.3:p.Leu322Ter
ENST00000494615.1:n.2281T>G
ENST00000537713.5:c.1289T>G	ENSP00000444295.1:p.Leu430Ter
ENST00000545822.2:c.1268T>G	ENSP00000442665.1:p.Leu423Ter
NM_000183.2:c.1334T>G	NP_000174.1:p.Leu445Ter
NM_001281512.1:c.1289T>G	NP_001268441.1:p.Leu430Ter
NM_001281513.1:c.1268T>G	NP_001268442.1:p.Leu423Ter
XM_011532803.1:c.1334T>G	XP_011531105.1:p.Leu445Ter
XM_011532804.1:c.1268T>G	XP_011531106.1:p.Leu423Ter
XM_024452830.1:c.1304T>G	XP_024308598.1:p.Leu435Ter
XM_024452831.1:c.1268T>G	XP_024308599.1:p.Leu423Ter
NM_000183.3:c.1334T>G MANE Select	NP_000174.1:p.Leu445Ter
NM_001281513.2:c.1268T>G	NP_001268442.1:p.Leu423Ter
NM_001281512.2:c.1289T>G	NP_001268441.1:p.Leu430Ter