Canonical Allele Identifier: CA9085029
Gene: RAX2 HGNC NCBI

Linked Data

ClinVar Variation Id: 623919
ClinVar RCV Id: RCV000761979
dbSNP Id: rs202103390
ExAC: 19:3770674 C / T
gnomAD v2: 19-3770674-C-T
gnomAD v3: 19-3770676-C-T
gnomAD v4: 19-3770676-C-T
MyVariant Identifiers: chr19:g.3770674C>T (hg19) chr19:g.3770676C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3770676C>T , CM000681.2:g.3770676C>T GRCh38
NC_000019.9:g.3770674C>T , CM000681.1:g.3770674C>T GRCh37
NC_000019.8:g.3721674C>T NCBI36
NG_011565.1:g.6546G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555633.3:c.500G>A MANE Select ENSP00000450456.3:p.Arg167Gln
ENST00000555633.2:c.500G>A ENSP00000450456.2:p.Arg167Gln
ENST00000555978.5:c.500G>A ENSP00000450687.2:p.Arg167Gln
NM_032753.3:c.500G>A NP_116142.1:p.Arg167Gln
XM_005259662.1:c.638G>A XP_005259719.1:p.Arg213Gln
NM_001319074.1:c.638G>A NP_001306003.1:p.Arg213Gln
NM_001319074.4:c.500G>A MANE Select NP_001306003.2:p.Arg167Gln
NM_032753.4:c.500G>A NP_116142.1:p.Arg167Gln
Search 100 bp 5'
Search 100 bp 3'