Canonical Allele Identifier: CA566773880
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1448974280
gnomAD v2: 6-42690120-C-G
gnomAD v4: 6-42722382-C-G
MyVariant Identifiers: chr6:g.42690120C>G (hg19) chr6:g.42722382C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722382C>G , CM000668.2:g.42722382C>G GRCh38
NC_000006.11:g.42690120C>G , CM000668.1:g.42690120C>G GRCh37
NC_000006.10:g.42798098C>G NCBI36
NG_009176.1:g.5239G>C
NG_009176.2:g.5239G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-48G>C MANE Select ENSP00000230381.5:n.-48G>C
ENST00000230381.6:c.-48G>C ENSP00000230381.5:n.-48G>C
NM_000322.4:c.-48G>C NP_000313.2:n.-48G>C
XR_427834.2:n.608G>C
XR_926295.1:n.608G>C
XR_427834.4:n.658G>C
XR_926295.3:n.658G>C
NM_000322.5:c.-48G>C MANE Select NP_000313.2:n.-48G>C
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