Canonical Allele Identifier: CA10575578
Gene: ANTXR1 HGNC NCBI

Linked Data

ClinVar Variation Id: 50908
ClinVar RCV Id: RCV000043623 RCV003390738
dbSNP Id: rs879255533
gnomAD v4: 2-69245213-A-G
MyVariant Identifiers: chr2:g.69472345A>G (hg19) chr2:g.69245213A>G (hg38)
PubMed: PMID:23602711
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.69245213A>G , CM000664.2:g.69245213A>G GRCh38
NC_000002.11:g.69472345A>G , CM000664.1:g.69472345A>G GRCh37
NC_000002.10:g.69325849A>G NCBI36
NG_012649.1:g.237070A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000303714.9:c.1435-12A>G MANE Select ENSP00000301945.4:n.1435-12A>G
ENST00000303714.8:c.1435-12A>G ENSP00000301945.4:n.1435-12A>G
NM_032208.2:c.1435-12A>G NP_115584.1:n.1435-12A>G
XR_939725.1:n.1582-12A>G
NM_032208.3:c.1435-12A>G MANE Select NP_115584.1:n.1435-12A>G
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