Canonical Allele Identifier: CA409094388

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42788993T>G (hg19) ; chr20:g.44160353T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44160353T>G , CM000682.2:g.44160353T>G	GRCh38
NC_000020.10:g.42788993T>G , CM000682.1:g.42788993T>G	GRCh37
NC_000020.9:g.42222407T>G	NCBI36
NG_031867.1:g.32226A>C , LRG_394:g.32226A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.434A>C MANE Select	ENSP00000362071.3:p.Gln145Pro
ENST00000372980.3:c.434A>C	ENSP00000362071.3:p.Gln145Pro
NM_020433.4:c.434A>C , LRG_394t1:c.434A>C	NP_065166.2:p.Gln145Pro
XM_006723832.2:c.434A>C	XP_006723895.1:p.Gln145Pro
NM_020433.5:c.434A>C MANE Select	NP_065166.2:p.Gln145Pro