Canonical Allele Identifier: CA409094379
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1474396064
gnomAD v2: 20-42788990-C-G
gnomAD v4: 20-44160350-C-G
MyVariant Identifiers: chr20:g.42788990C>G (hg19) chr20:g.44160350C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44160350C>G , CM000682.2:g.44160350C>G GRCh38
NC_000020.10:g.42788990C>G , CM000682.1:g.42788990C>G GRCh37
NC_000020.9:g.42222404C>G NCBI36
NG_031867.1:g.32229G>C , LRG_394:g.32229G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.437G>C MANE Select ENSP00000362071.3:p.Ser146Thr
ENST00000372980.3:c.437G>C ENSP00000362071.3:p.Ser146Thr
NM_020433.4:c.437G>C , LRG_394t1:c.437G>C NP_065166.2:p.Ser146Thr
XM_006723832.2:c.437G>C XP_006723895.1:p.Ser146Thr
NM_020433.5:c.437G>C MANE Select NP_065166.2:p.Ser146Thr
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