Canonical Allele Identifier: CA307520010
Gene: RHPN2 HGNC NCBI

Linked Data

dbSNP Id: rs529102489
gnomAD v3: 19-33041459-T-G
gnomAD v4: 19-33041459-T-G
MyVariant Identifiers: chr19:g.33532365T>G (hg19) chr19:g.33041459T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33041459T>G , CM000681.2:g.33041459T>G GRCh38
NC_000019.9:g.33532365T>G , CM000681.1:g.33532365T>G GRCh37
NC_000019.8:g.38224205T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000254260.8:c.185+2790A>C MANE Select ENSP00000254260.2:n.185+2790A>C
ENST00000254260.7:c.185+2790A>C ENSP00000254260.2:n.185+2790A>C
ENST00000588388.5:c.185+2790A>C ENSP00000465898.1:n.185+2790A>C
NM_033103.4:c.185+2790A>C NP_149094.3:n.185+2790A>C
NM_033103.5:c.185+2790A>C MANE Select NP_149094.3:n.185+2790A>C
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