Canonical Allele Identifier: CA364135370
Gene: PRPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr6:g.42672254T>A (hg19) chr6:g.42704516T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.42704516T>A , CM000668.2:g.42704516T>A GRCh38
NC_000006.11:g.42672254T>A , CM000668.1:g.42672254T>A GRCh37
NC_000006.10:g.42780232T>A NCBI36
NG_009176.1:g.23105A>T
NG_009176.2:g.23105A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000230381.7:c.677A>T MANE Select ENSP00000230381.5:p.Gln226Leu
ENST00000230381.6:c.677A>T ENSP00000230381.5:p.Gln226Leu
NM_000322.4:c.677A>T NP_000313.2:p.Gln226Leu
XR_427834.2:n.1332A>T
XR_427834.4:n.1382A>T
XR_926295.3:n.1564A>T
NM_000322.5:c.677A>T MANE Select NP_000313.2:p.Gln226Leu
Search 100 bp 5'
Search 100 bp 3'