Canonical Allele Identifier: CA2652956057

Gene: JPH2

Linked Data

• gnomAD v4: 20-44118657-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118657C>A , CM000682.2:g.44118657C>A	GRCh38
NC_000020.10:g.42747297C>A , CM000682.1:g.42747297C>A	GRCh37
NC_000020.9:g.42180711C>A	NCBI36
NG_031867.1:g.73922G>T , LRG_394:g.73922G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1170-34G>T MANE Select	ENSP00000362071.3:n.1170-34G>T
ENST00000372980.3:c.1170-34G>T	ENSP00000362071.3:n.1170-34G>T
NM_020433.4:c.1170-34G>T , LRG_394t1:c.1170-34G>T	NP_065166.2:n.1170-34G>T
XM_006723832.2:c.1170-34G>T	XP_006723895.1:n.1170-34G>T
NM_020433.5:c.1170-34G>T MANE Select	NP_065166.2:n.1170-34G>T