Canonical Allele Identifier: CA510571381
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44118545-G-C
MyVariant Identifiers: chr20:g.42747185G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118545G>C , CM000682.2:g.44118545G>C GRCh38
NC_000020.10:g.42747185G>C , CM000682.1:g.42747185G>C GRCh37
NC_000020.9:g.42180599G>C NCBI36
NG_031867.1:g.74034C>G , LRG_394:g.74034C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1248C>G MANE Select ENSP00000362071.3:p.Arg416=
ENST00000372980.3:c.1248C>G ENSP00000362071.3:p.Arg416=
NM_020433.4:c.1248C>G , LRG_394t1:c.1248C>G NP_065166.2:p.Arg416=
XM_006723832.2:c.1248C>G XP_006723895.1:p.Arg416=
NM_020433.5:c.1248C>G MANE Select NP_065166.2:p.Arg416=
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Search 100 bp 3'