Canonical Allele Identifier: CA510571366
Gene: JPH2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr20:g.42747167C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118527C>G , CM000682.2:g.44118527C>G GRCh38
NC_000020.10:g.42747167C>G , CM000682.1:g.42747167C>G GRCh37
NC_000020.9:g.42180581C>G NCBI36
NG_031867.1:g.74052G>C , LRG_394:g.74052G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1266G>C MANE Select ENSP00000362071.3:p.Leu422=
ENST00000372980.3:c.1266G>C ENSP00000362071.3:p.Leu422=
NM_020433.4:c.1266G>C , LRG_394t1:c.1266G>C NP_065166.2:p.Leu422=
XM_006723832.2:c.1266G>C XP_006723895.1:p.Leu422=
NM_020433.5:c.1266G>C MANE Select NP_065166.2:p.Leu422=
Search 100 bp 5'
Search 100 bp 3'