Canonical Allele Identifier: CA314643235
Gene: JPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010040
ClinVar RCV Id: RCV001307614 RCV004034131
dbSNP Id: rs1004964815
gnomAD v4: 20-44118558-G-C
MyVariant Identifiers: chr20:g.42747198G>C (hg19) chr20:g.44118558G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44118558G>C , CM000682.2:g.44118558G>C GRCh38
NC_000020.10:g.42747198G>C , CM000682.1:g.42747198G>C GRCh37
NC_000020.9:g.42180612G>C NCBI36
NG_031867.1:g.74021C>G , LRG_394:g.74021C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372980.4:c.1235C>G MANE Select ENSP00000362071.3:p.Ser412Cys
ENST00000372980.3:c.1235C>G ENSP00000362071.3:p.Ser412Cys
NM_020433.4:c.1235C>G , LRG_394t1:c.1235C>G NP_065166.2:p.Ser412Cys
XM_006723832.2:c.1235C>G XP_006723895.1:p.Ser412Cys
NM_020433.5:c.1235C>G MANE Select NP_065166.2:p.Ser412Cys
Search 100 bp 5'
Search 100 bp 3'