Canonical Allele Identifier: CA566773859

Gene: PRPH2

Linked Data

• dbSNP Id: rs1318370060
• gnomAD v2: 6-42689337-T-G
• gnomAD v3: 6-42721599-T-G
• gnomAD v4: 6-42721599-T-G
• MyVariant Identifiers: chr6:g.42689337T>G (hg19) ; chr6:g.42721599T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721599T>G , CM000668.2:g.42721599T>G	GRCh38
NC_000006.11:g.42689337T>G , CM000668.1:g.42689337T>G	GRCh37
NC_000006.10:g.42797315T>G	NCBI36
NG_009176.1:g.6022A>C
NG_009176.2:g.6022A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.581+155A>C MANE Select	ENSP00000230381.5:n.581+155A>C
ENST00000230381.6:c.581+155A>C	ENSP00000230381.5:n.581+155A>C
NM_000322.4:c.581+155A>C	NP_000313.2:n.581+155A>C
XR_427834.2:n.1236+155A>C
XR_926295.1:n.1236+155A>C
XR_427834.4:n.1286+155A>C
XR_926295.3:n.1286+155A>C
NM_000322.5:c.581+155A>C MANE Select	NP_000313.2:n.581+155A>C