Canonical Allele Identifier: CA1977409

Gene: HOXD10

Linked Data

• ClinVar Variation Id: 714132
• ClinVar RCV Id: RCV000886393
• dbSNP Id: rs61740491
• ExAC: 2:176983704 A / C
• gnomAD v2: 2-176983704-A-C
• gnomAD v3: 2-176118976-A-C
• gnomAD v4: 2-176118976-A-C
• MyVariant Identifiers: chr2:g.176983704A>C (hg19) ; chr2:g.176118976A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176118976A>C , CM000664.2:g.176118976A>C	GRCh38
NC_000002.11:g.176983704A>C , CM000664.1:g.176983704A>C	GRCh37
NC_000002.10:g.176691950A>C	NCBI36
NG_008133.2:g.12213A>C , LRG_246:g.12213A>C
NG_009225.1:g.1292A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000249501.5:c.768A>C MANE Select	ENSP00000249501.4:p.Pro256=
ENST00000249501.4:c.768A>C	ENSP00000249501.4:p.Pro256=
ENST00000490088.2:n.592A>C
ENST00000549469.1:n.639A>C
NM_002148.3:c.768A>C , LRG_246t1:c.768A>C	NP_002139.2:p.Pro256=
NM_002148.4:c.768A>C MANE Select	NP_002139.2:p.Pro256=