Canonical Allele Identifier: CA510739729

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42788668G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160028G>C , CM000682.2:g.44160028G>C	GRCh38
NC_000020.10:g.42788668G>C , CM000682.1:g.42788668G>C	GRCh37
NC_000020.9:g.42222082G>C	NCBI36
NG_031867.1:g.32551C>G , LRG_394:g.32551C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.759C>G MANE Select	ENSP00000362071.3:p.Leu253=
ENST00000372980.3:c.759C>G	ENSP00000362071.3:p.Leu253=
NM_020433.4:c.759C>G , LRG_394t1:c.759C>G	NP_065166.2:p.Leu253=
XM_006723832.2:c.759C>G	XP_006723895.1:p.Leu253=
NM_020433.5:c.759C>G MANE Select	NP_065166.2:p.Leu253=