Canonical Allele Identifier: CA5791191

Gene: PNPLA2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.823742C>T , CM000673.2:g.823742C>T	GRCh38
NC_000011.9:g.823742C>T , CM000673.1:g.823742C>T	GRCh37
NC_000011.8:g.813742C>T	NCBI36
NG_023394.1:g.9842C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_020376.4:c.806C>T MANE Select	NP_065109.1:p.Pro269Leu
ENST00000336615.9:c.806C>T MANE Select	ENSP00000337701.4:p.Pro269Leu
NM_020376.3:c.806C>T	NP_065109.1:p.Pro269Leu
ENST00000336615.8:c.806C>T	ENSP00000337701.4:p.Pro269Leu
ENST00000525250.5:n.1518C>T
ENST00000526083.1:n.95C>T
ENST00000529255.1:n.94C>T
ENST00000617551.1:c.-339C>T	ENSP00000481602.1:n.-339C>T
XM_006718265.2:c.806C>T	XP_006718328.1:p.Pro269Leu
XM_006718265.3:c.806C>T	XP_006718328.1:p.Pro269Leu
XM_006718266.2:c.806C>T	XP_006718329.1:p.Pro269Leu
XM_006718266.3:c.806C>T	XP_006718329.1:p.Pro269Leu
XM_017018028.1:c.806C>T	XP_016873517.1:p.Pro269Leu
XM_024448618.1:c.806C>T	XP_024304386.1:p.Pro269Leu