Canonical Allele Identifier: CA314629692

Gene: JPH2

Linked Data

• ClinVar Variation Id: 454470
• ClinVar RCV Id: RCV000538399 ; RCV002367765 ; RCV002481748
• dbSNP Id: rs976272461
• gnomAD v2: 20-42788807-T-C
• gnomAD v3: 20-44160167-T-C
• gnomAD v4: 20-44160167-T-C
• MyVariant Identifiers: chr20:g.42788807T>C (hg19) ; chr20:g.44160167T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160167T>C , CM000682.2:g.44160167T>C	GRCh38
NC_000020.10:g.42788807T>C , CM000682.1:g.42788807T>C	GRCh37
NC_000020.9:g.42222221T>C	NCBI36
NG_031867.1:g.32412A>G , LRG_394:g.32412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.620A>G MANE Select	ENSP00000362071.3:p.Asn207Ser
ENST00000372980.3:c.620A>G	ENSP00000362071.3:p.Asn207Ser
NM_020433.4:c.620A>G , LRG_394t1:c.620A>G	NP_065166.2:p.Asn207Ser
XM_006723832.2:c.620A>G	XP_006723895.1:p.Asn207Ser
NM_020433.5:c.620A>G MANE Select	NP_065166.2:p.Asn207Ser