Canonical Allele Identifier: CA1624187241
Gene: PRPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1761923232
gnomAD v4: 6-42722396-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42722396G>T , CM000668.2:g.42722396G>T GRCh38
NC_000006.11:g.42690134G>T , CM000668.1:g.42690134G>T GRCh37
NC_000006.10:g.42798112G>T NCBI36
NG_009176.1:g.5225C>A
NG_009176.2:g.5225C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000230381.7:c.-62C>A MANE Select ENSP00000230381.5:n.-62C>A
ENST00000230381.6:c.-62C>A ENSP00000230381.5:n.-62C>A
NM_000322.4:c.-62C>A NP_000313.2:n.-62C>A
XR_427834.2:n.594C>A
XR_926295.1:n.594C>A
XR_427834.4:n.644C>A
XR_926295.3:n.644C>A
NM_000322.5:c.-62C>A MANE Select NP_000313.2:n.-62C>A
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