Canonical Allele Identifier: CA364138988

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42690072T>G (hg19) ; chr6:g.42722334T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42722334T>G , CM000668.2:g.42722334T>G	GRCh38
NC_000006.11:g.42690072T>G , CM000668.1:g.42690072T>G	GRCh37
NC_000006.10:g.42798050T>G	NCBI36
NG_009176.1:g.5287A>C
NG_009176.2:g.5287A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.1A>C MANE Select	ENSP00000230381.5:p.Met1Leu
ENST00000230381.6:c.1A>C	ENSP00000230381.5:p.Met1Leu
NM_000322.4:c.1A>C	NP_000313.2:p.Met1Leu
XR_427834.2:n.656A>C
XR_926295.1:n.656A>C
XR_427834.4:n.706A>C
XR_926295.3:n.706A>C
NM_000322.5:c.1A>C MANE Select	NP_000313.2:p.Met1Leu