Canonical Allele Identifier: CA409101760

Gene: JPH2

Linked Data

• MyVariant Identifiers: chr20:g.42747196T>G (hg19) ; chr20:g.44118556T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.44118556T>G , CM000682.2:g.44118556T>G	GRCh38
NC_000020.10:g.42747196T>G , CM000682.1:g.42747196T>G	GRCh37
NC_000020.9:g.42180610T>G	NCBI36
NG_031867.1:g.74023A>C , LRG_394:g.74023A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372980.4:c.1237A>C MANE Select	ENSP00000362071.3:p.Asn413His
ENST00000372980.3:c.1237A>C	ENSP00000362071.3:p.Asn413His
NM_020433.4:c.1237A>C , LRG_394t1:c.1237A>C	NP_065166.2:p.Asn413His
XM_006723832.2:c.1237A>C	XP_006723895.1:p.Asn413His
NM_020433.5:c.1237A>C MANE Select	NP_065166.2:p.Asn413His