Canonical Allele Identifier: CA2814176107
Gene: RHPN2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33041412T>G , CM000681.2:g.33041412T>G GRCh38
NC_000019.9:g.33532318T>G , CM000681.1:g.33532318T>G GRCh37
NC_000019.8:g.38224158T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254260.8:c.185+2837A>C MANE Select ENSP00000254260.2:n.185+2837A>C
ENST00000254260.7:c.185+2837A>C ENSP00000254260.2:n.185+2837A>C
ENST00000588388.5:c.185+2837A>C ENSP00000465898.1:n.185+2837A>C
NM_033103.4:c.185+2837A>C NP_149094.3:n.185+2837A>C
NM_033103.5:c.185+2837A>C MANE Select NP_149094.3:n.185+2837A>C