Canonical Allele Identifier: CA504979236
Gene: RAX2 HGNC NCBI

Linked Data

gnomAD v4: 19-3770669-C-G
MyVariant Identifiers: chr19:g.3770667C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3770669C>G , CM000681.2:g.3770669C>G GRCh38
NC_000019.9:g.3770667C>G , CM000681.1:g.3770667C>G GRCh37
NC_000019.8:g.3721667C>G NCBI36
NG_011565.1:g.6553G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000555633.3:c.507G>C MANE Select ENSP00000450456.3:p.Leu169=
ENST00000555633.2:c.507G>C ENSP00000450456.2:p.Leu169=
ENST00000555978.5:c.507G>C ENSP00000450687.2:p.Leu169=
NM_032753.3:c.507G>C NP_116142.1:p.Leu169=
XM_005259662.1:c.645G>C XP_005259719.1:p.Leu215=
NM_001319074.1:c.645G>C NP_001306003.1:p.Leu215=
NM_001319074.4:c.507G>C MANE Select NP_001306003.2:p.Leu169=
NM_032753.4:c.507G>C NP_116142.1:p.Leu169=
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