Canonical Allele Identifier: CA364135887
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1331346375
gnomAD v2: 6-42672349-A-C
gnomAD v3: 6-42704611-A-C
gnomAD v4: 6-42704611-A-C
MyVariant Identifiers: chr6:g.42672349A>C (hg19) chr6:g.42704611A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704611A>C , CM000668.2:g.42704611A>C GRCh38
NC_000006.11:g.42672349A>C , CM000668.1:g.42672349A>C GRCh37
NC_000006.10:g.42780327A>C NCBI36
NG_009176.1:g.23010T>G
NG_009176.2:g.23010T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.582T>G MANE Select ENSP00000230381.5:p.Asp194Glu
ENST00000230381.6:c.582T>G ENSP00000230381.5:p.Asp194Glu
NM_000322.4:c.582T>G NP_000313.2:p.Asp194Glu
XR_427834.2:n.1237T>G
XR_926295.1:n.1419T>G
XR_427834.4:n.1287T>G
XR_926295.3:n.1469T>G
NM_000322.5:c.582T>G MANE Select NP_000313.2:p.Asp194Glu
Search 100 bp 5'
Search 100 bp 3'