Canonical Allele Identifier: CA1624186849

Gene: PRPH2

Linked Data

• dbSNP Id: rs1761901321

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721571G>C , CM000668.2:g.42721571G>C	GRCh38
NC_000006.11:g.42689309G>C , CM000668.1:g.42689309G>C	GRCh37
NC_000006.10:g.42797287G>C	NCBI36
NG_009176.1:g.6050C>G
NG_009176.2:g.6050C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+183C>G MANE Select	ENSP00000230381.5:n.581+183C>G
ENST00000230381.6:c.581+183C>G	ENSP00000230381.5:n.581+183C>G
NM_000322.4:c.581+183C>G	NP_000313.2:n.581+183C>G
XR_427834.2:n.1236+183C>G
XR_926295.1:n.1236+183C>G
XR_427834.4:n.1286+183C>G
XR_926295.3:n.1286+183C>G
NM_000322.5:c.581+183C>G MANE Select	NP_000313.2:n.581+183C>G