Canonical Allele Identifier: CA307519955
Gene: RHPN2 HGNC NCBI

Linked Data

dbSNP Id: rs990571917
gnomAD v2: 19-33532271-G-A
gnomAD v3: 19-33041365-G-A
gnomAD v4: 19-33041365-G-A
MyVariant Identifiers: chr19:g.33532271G>A (hg19) chr19:g.33041365G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33041365G>A , CM000681.2:g.33041365G>A GRCh38
NC_000019.9:g.33532271G>A , CM000681.1:g.33532271G>A GRCh37
NC_000019.8:g.38224111G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000254260.8:c.185+2884C>T MANE Select ENSP00000254260.2:n.185+2884C>T
ENST00000254260.7:c.185+2884C>T ENSP00000254260.2:n.185+2884C>T
ENST00000588388.5:c.185+2884C>T ENSP00000465898.1:n.185+2884C>T
NM_033103.4:c.185+2884C>T NP_149094.3:n.185+2884C>T
NM_033103.5:c.185+2884C>T MANE Select NP_149094.3:n.185+2884C>T
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