Canonical Allele Identifier: CA3808683
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs759720567
ExAC: 6:42690086 A / G
gnomAD v2: 6-42690086-A-G
gnomAD v4: 6-42722348-A-G
MyVariant Identifiers: chr6:g.42690086A>G (hg19) chr6:g.42722348A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722348A>G , CM000668.2:g.42722348A>G GRCh38
NC_000006.11:g.42690086A>G , CM000668.1:g.42690086A>G GRCh37
NC_000006.10:g.42798064A>G NCBI36
NG_009176.1:g.5273T>C
NG_009176.2:g.5273T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-14T>C MANE Select ENSP00000230381.5:n.-14T>C
ENST00000230381.6:c.-14T>C ENSP00000230381.5:n.-14T>C
NM_000322.4:c.-14T>C NP_000313.2:n.-14T>C
XR_427834.2:n.642T>C
XR_926295.1:n.642T>C
XR_427834.4:n.692T>C
XR_926295.3:n.692T>C
NM_000322.5:c.-14T>C MANE Select NP_000313.2:n.-14T>C
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