Canonical Allele Identifier: CA15948166
Gene: RHPN2 HGNC NCBI
COSMIC:
COSN17137370 (not active)
COSN17140988 (not active)
COSN17142044 (not active)
COSN17144045 (not active)
COSN17147705 (not active)
MyVariant.info:
GRCh38 chr19:g.33041394C>T
GRCh37 chr19:g.33532300C>T
gnomAD v2:
19:33532300 C / T
gnomAD v3:
19:33041394 C / T
gnomAD v4:
chr19-33041394-C-T
Joint Max Group AF 0.42111911 (AFR)
Genomes Max Group AF 0.42111911 (AFR)
dbSNP:
10411210
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.33041394C>T , CM000681.2:g.33041394C>T GRCh38
NC_000019.9:g.33532300C>T , CM000681.1:g.33532300C>T GRCh37
NC_000019.8:g.38224140C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000254260.8:c.185+2855G>A MANE Select ENSP00000254260.2:n.185+2855G>A
ENST00000254260.7:c.185+2855G>A ENSP00000254260.2:n.185+2855G>A
ENST00000588388.5:c.185+2855G>A ENSP00000465898.1:n.185+2855G>A
NM_033103.4:c.185+2855G>A NP_149094.3:n.185+2855G>A
NM_033103.5:c.185+2855G>A MANE Select NP_149094.3:n.185+2855G>A
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