Canonical Allele Identifier: CA364135523

Gene: PRPH2

Linked Data

• MyVariant Identifiers: chr6:g.42672281C>A (hg19) ; chr6:g.42704543C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.42704543C>A , CM000668.2:g.42704543C>A	GRCh38
NC_000006.11:g.42672281C>A , CM000668.1:g.42672281C>A	GRCh37
NC_000006.10:g.42780259C>A	NCBI36
NG_009176.1:g.23078G>T
NG_009176.2:g.23078G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000230381.7:c.650G>T MANE Select	ENSP00000230381.5:p.Ser217Ile
ENST00000230381.6:c.650G>T	ENSP00000230381.5:p.Ser217Ile
NM_000322.4:c.650G>T	NP_000313.2:p.Ser217Ile
XR_427834.2:n.1305G>T
XR_926295.1:n.1487G>T
XR_427834.4:n.1355G>T
XR_926295.3:n.1537G>T
NM_000322.5:c.650G>T MANE Select	NP_000313.2:p.Ser217Ile