Canonical Allele Identifier: CA1693255
Gene: ANTXR1 HGNC NCBI
RNA5SP96 HGNC NCBI

Linked Data

ClinVar Variation Id: 262019
ClinVar RCV Id: RCV000250804 RCV001554004 RCV001709556 RCV003316452
dbSNP Id: rs6749826
ExAC: 2:69409029 C / A
gnomAD v2: 2-69409029-C-A
gnomAD v3: 2-69181897-C-A
gnomAD v4: 2-69181897-C-A
MyVariant Identifiers: chr2:g.69409029C>A (hg19) chr2:g.69181897C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.69181897C>A , CM000664.2:g.69181897C>A GRCh38
NC_000002.11:g.69409029C>A , CM000664.1:g.69409029C>A GRCh37
NC_000002.10:g.69262533C>A NCBI36
NG_012649.1:g.173754C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000303714.9:c.1185+16C>A (ANTXR1) MANE Select ENSP00000301945.4:n.1185+16C>A
ENST00000516041.1:n.107G>T (RNA5SP96)
ENST00000303714.8:c.1185+16C>A (ANTXR1) ENSP00000301945.4:n.1185+16C>A
NM_032208.2:c.1185+16C>A (ANTXR1) NP_115584.1:n.1185+16C>A
XM_011533124.1:c.1185+16C>A (ANTXR1) XP_011531426.1:n.1185+16C>A
XR_939725.1:n.1332+16C>A (ANTXR1)
NM_032208.3:c.1185+16C>A (ANTXR1) MANE Select NP_115584.1:n.1185+16C>A
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