Canonical Allele Identifier: CA249106

Gene: HOXD13

Linked Data

• ClinVar Variation Id: 218457
• ClinVar RCV Id: RCV000202911 ; RCV002057040 ; RCV004553104
• dbSNP Id: rs200067774
• ExAC: 2:176958118 A / G
• gnomAD v2: 2-176958118-A-G
• gnomAD v3: 2-176093390-A-G
• gnomAD v4: 2-176093390-A-G
• MyVariant Identifiers: chr2:g.176958118A>G (hg19) ; chr2:g.176093390A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.176093390A>G , CM000664.2:g.176093390A>G	GRCh38
NC_000002.11:g.176958118A>G , CM000664.1:g.176958118A>G	GRCh37
NC_000002.10:g.176666364A>G	NCBI36
NG_008137.1:g.5587A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000392539.4:c.500A>G MANE Select	ENSP00000376322.3:p.Tyr167Cys
ENST00000392539.3:c.500A>G	ENSP00000376322.3:p.Tyr167Cys
NM_000523.3:c.500A>G	NP_000514.2:p.Tyr167Cys
XM_011511068.1:c.725-1090A>G	XP_011509370.1:n.725-1090A>G
XM_011511068.2:c.725-1090A>G	XP_011509370.1:n.725-1090A>G
NM_000523.4:c.500A>G MANE Select	NP_000514.2:p.Tyr167Cys