Canonical Allele Identifier: CA636173696
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1238462367
gnomAD v2: 20-42789060-A-G
gnomAD v4: 20-44160420-A-G
MyVariant Identifiers: chr20:g.42789060A>G (hg19) chr20:g.44160420A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160420A>G , CM000682.2:g.44160420A>G GRCh38
NC_000020.10:g.42789060A>G , CM000682.1:g.42789060A>G GRCh37
NC_000020.9:g.42222474A>G NCBI36
NG_031867.1:g.32159T>C , LRG_394:g.32159T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.380-13T>C MANE Select ENSP00000362071.3:n.380-13T>C
ENST00000372980.3:c.380-13T>C ENSP00000362071.3:n.380-13T>C
NM_020433.4:c.380-13T>C , LRG_394t1:c.380-13T>C NP_065166.2:n.380-13T>C
XM_006723832.2:c.380-13T>C XP_006723895.1:n.380-13T>C
NM_020433.5:c.380-13T>C MANE Select NP_065166.2:n.380-13T>C
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