Canonical Allele Identifier: CA378978783

Gene: PNPLA2

Linked Data

• dbSNP Id: rs1475541059
• gnomAD v2: 11-821976-T-C
• gnomAD v4: 11-821976-T-C
• MyVariant Identifiers: chr11:g.821976T>C (hg19) ; chr11:g.821976T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.821976T>C , CM000673.2:g.821976T>C	GRCh38
NC_000011.9:g.821976T>C , CM000673.1:g.821976T>C	GRCh37
NC_000011.8:g.811976T>C	NCBI36
NG_023394.1:g.8076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.439T>C MANE Select	ENSP00000337701.4:p.Phe147Leu
ENST00000336615.8:c.439T>C	ENSP00000337701.4:p.Phe147Leu
ENST00000525250.5:n.1045T>C
ENST00000534561.1:n.106T>C
ENST00000617551.1:c.-812T>C	ENSP00000481602.1:n.-812T>C
NM_020376.3:c.439T>C	NP_065109.1:p.Phe147Leu
XM_006718265.2:c.439T>C	XP_006718328.1:p.Phe147Leu
XM_006718266.2:c.439T>C	XP_006718329.1:p.Phe147Leu
XM_006718265.3:c.439T>C	XP_006718328.1:p.Phe147Leu
XM_006718266.3:c.439T>C	XP_006718329.1:p.Phe147Leu
XM_017018028.1:c.439T>C	XP_016873517.1:p.Phe147Leu
XM_024448618.1:c.439T>C	XP_024304386.1:p.Phe147Leu
NM_020376.4:c.439T>C MANE Select	NP_065109.1:p.Phe147Leu