Canonical Allele Identifier: CA378977291

Gene: PNPLA2

Linked Data

• ClinVar Variation Id: 520846
• ClinVar RCV Id: RCV000624017 ; RCV003497872
• dbSNP Id: rs1554975332
• gnomAD v4: 11-819906-G-C
• MyVariant Identifiers: chr11:g.819906G>C (hg19) ; chr11:g.819906G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.819906G>C , CM000673.2:g.819906G>C	GRCh38
NC_000011.9:g.819906G>C , CM000673.1:g.819906G>C	GRCh37
NC_000011.8:g.809906G>C	NCBI36
NG_023394.1:g.6006G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336615.9:c.187+1G>C MANE Select	ENSP00000337701.4:n.187+1G>C
ENST00000336615.8:c.187+1G>C	ENSP00000337701.4:n.187+1G>C
NM_020376.3:c.187+1G>C	NP_065109.1:n.187+1G>C
XM_006718265.2:c.187+1G>C	XP_006718328.1:n.187+1G>C
XM_006718266.2:c.187+1G>C	XP_006718329.1:n.187+1G>C
XM_006718265.3:c.187+1G>C	XP_006718328.1:n.187+1G>C
XM_006718266.3:c.187+1G>C	XP_006718329.1:n.187+1G>C
XM_017018028.1:c.187+1G>C	XP_016873517.1:n.187+1G>C
XM_024448618.1:c.187+1G>C	XP_024304386.1:n.187+1G>C
NM_020376.4:c.187+1G>C MANE Select	NP_065109.1:n.187+1G>C