Canonical Allele Identifier: CA409094269
Gene: JPH2 HGNC NCBI

Linked Data

gnomAD v4: 20-44160290-A-G
MyVariant Identifiers: chr20:g.42788930A>G (hg19) chr20:g.44160290A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160290A>G , CM000682.2:g.44160290A>G GRCh38
NC_000020.10:g.42788930A>G , CM000682.1:g.42788930A>G GRCh37
NC_000020.9:g.42222344A>G NCBI36
NG_031867.1:g.32289T>C , LRG_394:g.32289T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.497T>C MANE Select ENSP00000362071.3:p.Leu166Pro
ENST00000372980.3:c.497T>C ENSP00000362071.3:p.Leu166Pro
NM_020433.4:c.497T>C , LRG_394t1:c.497T>C NP_065166.2:p.Leu166Pro
XM_006723832.2:c.497T>C XP_006723895.1:p.Leu166Pro
NM_020433.5:c.497T>C MANE Select NP_065166.2:p.Leu166Pro
Search 100 bp 5'
Search 100 bp 3'