Canonical Allele Identifier: CA60873794

Gene: HOXD10

Linked Data

• ClinVar Variation Id: 2432526
• ClinVar RCV Id: RCV003135615 ; RCV004245998
• dbSNP Id: rs1028897377
• gnomAD v2: 2-176983689-C-G
• gnomAD v3: 2-176118961-C-G
• gnomAD v4: 2-176118961-C-G
• MyVariant Identifiers: chr2:g.176983689C>G (hg19) ; chr2:g.176118961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176118961C>G , CM000664.2:g.176118961C>G	GRCh38
NC_000002.11:g.176983689C>G , CM000664.1:g.176983689C>G	GRCh37
NC_000002.10:g.176691935C>G	NCBI36
NG_008133.2:g.12198C>G , LRG_246:g.12198C>G
NG_009225.1:g.1277C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249501.5:c.753C>G MANE Select	ENSP00000249501.4:p.Ile251Met
ENST00000249501.4:c.753C>G	ENSP00000249501.4:p.Ile251Met
ENST00000490088.2:n.577C>G
ENST00000549469.1:n.624C>G
NM_002148.3:c.753C>G , LRG_246t1:c.753C>G	NP_002139.2:p.Ile251Met
NM_002148.4:c.753C>G MANE Select	NP_002139.2:p.Ile251Met