Canonical Allele Identifier: CA364135904
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42672351T>G (hg19) chr6:g.42704613T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704613T>G , CM000668.2:g.42704613T>G GRCh38
NC_000006.11:g.42672351T>G , CM000668.1:g.42672351T>G GRCh37
NC_000006.10:g.42780329T>G NCBI36
NG_009176.1:g.23008A>C
NG_009176.2:g.23008A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.582-2A>C MANE Select ENSP00000230381.5:n.582-2A>C
ENST00000230381.6:c.582-2A>C ENSP00000230381.5:n.582-2A>C
NM_000322.4:c.582-2A>C NP_000313.2:n.582-2A>C
XR_427834.2:n.1237-2A>C
XR_926295.1:n.1419-2A>C
XR_427834.4:n.1287-2A>C
XR_926295.3:n.1469-2A>C
NM_000322.5:c.582-2A>C MANE Select NP_000313.2:n.582-2A>C
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