Canonical Allele Identifier: CA636173619
Gene: JPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1401897603
gnomAD v2: 20-42744270-C-A
gnomAD v4: 20-44115630-C-A
MyVariant Identifiers: chr20:g.42744270C>A (hg19) chr20:g.44115630C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.44115630C>A , CM000682.2:g.44115630C>A GRCh38
NC_000020.10:g.42744270C>A , CM000682.1:g.42744270C>A GRCh37
NC_000020.9:g.42177684C>A NCBI36
NG_031867.1:g.76949G>T , LRG_394:g.76949G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000372980.4:c.2010+35G>T MANE Select ENSP00000362071.3:n.2010+35G>T
ENST00000372980.3:c.2010+35G>T ENSP00000362071.3:n.2010+35G>T
NM_020433.4:c.2010+35G>T , LRG_394t1:c.2010+35G>T NP_065166.2:n.2010+35G>T
XM_006723832.2:c.2010+35G>T XP_006723895.1:n.2010+35G>T
NM_020433.5:c.2010+35G>T MANE Select NP_065166.2:n.2010+35G>T
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