Canonical Allele Identifier: CA472352555
Gene: PNPLA2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.822008C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.822008C>T , CM000673.2:g.822008C>T GRCh38
NC_000011.9:g.822008C>T , CM000673.1:g.822008C>T GRCh37
NC_000011.8:g.812008C>T NCBI36
NG_023394.1:g.8108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336615.9:c.471C>T MANE Select ENSP00000337701.4:p.Pro157=
ENST00000336615.8:c.471C>T ENSP00000337701.4:p.Pro157=
ENST00000525250.5:n.1077C>T
ENST00000534561.1:n.138C>T
ENST00000617551.1:c.-780C>T ENSP00000481602.1:n.-780C>T
NM_020376.3:c.471C>T NP_065109.1:p.Pro157=
XM_006718265.2:c.471C>T XP_006718328.1:p.Pro157=
XM_006718266.2:c.471C>T XP_006718329.1:p.Pro157=
XM_006718265.3:c.471C>T XP_006718328.1:p.Pro157=
XM_006718266.3:c.471C>T XP_006718329.1:p.Pro157=
XM_017018028.1:c.471C>T XP_016873517.1:p.Pro157=
XM_024448618.1:c.471C>T XP_024304386.1:p.Pro157=
NM_020376.4:c.471C>T MANE Select NP_065109.1:p.Pro157=