Canonical Allele Identifier: CA409094331

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42788966A>C (hg19) ; chr20:g.44160326A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160326A>C , CM000682.2:g.44160326A>C	GRCh38
NC_000020.10:g.42788966A>C , CM000682.1:g.42788966A>C	GRCh37
NC_000020.9:g.42222380A>C	NCBI36
NG_031867.1:g.32253T>G , LRG_394:g.32253T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.461T>G MANE Select	ENSP00000362071.3:p.Val154Gly
ENST00000372980.3:c.461T>G	ENSP00000362071.3:p.Val154Gly
NM_020433.4:c.461T>G , LRG_394t1:c.461T>G	NP_065166.2:p.Val154Gly
XM_006723832.2:c.461T>G	XP_006723895.1:p.Val154Gly
NM_020433.5:c.461T>G MANE Select	NP_065166.2:p.Val154Gly