Canonical Allele Identifier: CA2652956038
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs2145840641
gnomAD v4: 20-44118627-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118627T>C , CM000682.2:g.44118627T>C GRCh38
NC_000020.10:g.42747267T>C , CM000682.1:g.42747267T>C GRCh37
NC_000020.9:g.42180681T>C NCBI36
NG_031867.1:g.73952A>G , LRG_394:g.73952A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.1170-4A>G MANE Select ENSP00000362071.3:n.1170-4A>G
ENST00000372980.3:c.1170-4A>G ENSP00000362071.3:n.1170-4A>G
NM_020433.4:c.1170-4A>G , LRG_394t1:c.1170-4A>G NP_065166.2:n.1170-4A>G
XM_006723832.2:c.1170-4A>G XP_006723895.1:n.1170-4A>G
NM_020433.5:c.1170-4A>G MANE Select NP_065166.2:n.1170-4A>G
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