Canonical Allele Identifier: CA364137614

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42689660A>C (hg19) ; chr6:g.42721922A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42721922A>C , CM000668.2:g.42721922A>C	GRCh38
NC_000006.11:g.42689660A>C , CM000668.1:g.42689660A>C	GRCh37
NC_000006.10:g.42797638A>C	NCBI36
NG_009176.1:g.5699T>G
NG_009176.2:g.5699T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000230381.7:c.413T>G MANE Select	ENSP00000230381.5:p.Met138Arg
ENST00000230381.6:c.413T>G	ENSP00000230381.5:p.Met138Arg
NM_000322.4:c.413T>G	NP_000313.2:p.Met138Arg
XR_427834.2:n.1068T>G
XR_926295.1:n.1068T>G
XR_427834.4:n.1118T>G
XR_926295.3:n.1118T>G
NM_000322.5:c.413T>G MANE Select	NP_000313.2:p.Met138Arg