Canonical Allele Identifier: CA10611957
Gene: HOXD10 HGNC NCBI

Linked Data

ClinVar Variation Id: 332507
ClinVar RCV Id: RCV000374208
dbSNP Id: rs72923454
gnomAD v2: 2-176984544-C-T
gnomAD v3: 2-176119816-C-T
gnomAD v4: 2-176119816-C-T
MyVariant Identifiers: chr2:g.176984544C>T (hg19) chr2:g.176119816C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.176119816C>T , CM000664.2:g.176119816C>T GRCh38
NC_000002.11:g.176984544C>T , CM000664.1:g.176984544C>T GRCh37
NC_000002.10:g.176692790C>T NCBI36
NG_008133.2:g.13053C>T , LRG_246:g.13053C>T
NG_009225.1:g.2132C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000249501.5:c.*585C>T MANE Select ENSP00000249501.4:n.*585C>T
ENST00000249501.4:c.*585C>T ENSP00000249501.4:n.*585C>T
NM_002148.3:c.*585C>T , LRG_246t1:c.*585C>T NP_002139.2:n.*585C>T
NM_002148.4:c.*585C>T MANE Select NP_002139.2:n.*585C>T
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