Canonical Allele Identifier: CA201718
Gene: RAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 195392
ClinVar RCV Id: RCV000175961 RCV000310822 RCV000365551 RCV000881088
dbSNP Id: rs139127905
ExAC: 19:3771696 A / C
gnomAD v2: 19-3771696-A-C
gnomAD v3: 19-3771698-A-C
gnomAD v4: 19-3771698-A-C
MyVariant Identifiers: chr19:g.3771696A>C (hg19) chr19:g.3771698A>C (hg38)
PubMed: PMID:28135719
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3771698A>C , CM000681.2:g.3771698A>C GRCh38
NC_000019.9:g.3771696A>C , CM000681.1:g.3771696A>C GRCh37
NC_000019.8:g.3722696A>C NCBI36
NG_011565.1:g.5524T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000555633.3:c.45T>G MANE Select ENSP00000450456.3:p.Gly15=
ENST00000555633.2:c.45T>G ENSP00000450456.2:p.Gly15=
ENST00000555978.5:c.45T>G ENSP00000450687.2:p.Gly15=
NM_032753.3:c.45T>G NP_116142.1:p.Gly15=
XM_005259662.1:c.183T>G XP_005259719.1:p.Gly61=
NM_001319074.1:c.183T>G NP_001306003.1:p.Gly61=
NM_001319074.4:c.45T>G MANE Select NP_001306003.2:p.Gly15=
NM_032753.4:c.45T>G NP_116142.1:p.Gly15=
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