Canonical Allele Identifier: CA510571367
Gene: JPH2 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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