Canonical Allele Identifier: CA698351

Gene: PAFAH2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25988297C>T , CM000663.2:g.25988297C>T	GRCh38
NC_000001.10:g.26314788C>T , CM000663.1:g.26314788C>T	GRCh37
NC_000001.9:g.26187375C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000437.4:c.275G>A MANE Select	NP_000428.2:p.Gly92Asp
ENST00000374282.8:c.275G>A MANE Select	ENSP00000363400.3:p.Gly92Asp
NM_000437.3:c.275G>A	NP_000428.2:p.Gly92Asp
ENST00000374282.7:c.275G>A	ENSP00000363400.3:p.Gly92Asp
ENST00000374284.5:c.275G>A	ENSP00000363402.1:p.Gly92Asp
ENST00000439092.6:c.275G>A	ENSP00000408313.1:p.Gly92Asp
ENST00000441420.1:c.275G>A	ENSP00000411011.1:p.Gly92Asp
ENST00000464540.1:n.94-3769G>A
ENST00000493892.5:n.169+2430G>A
XM_006710670.2:c.275G>A	XP_006710733.1:p.Gly92Asp
XM_006710670.3:c.275G>A	XP_006710733.1:p.Gly92Asp
XM_011541528.1:c.347G>A	XP_011539830.1:p.Gly116Asp
XM_011541528.2:c.347G>A	XP_011539830.1:p.Gly116Asp
XM_011541529.1:c.-23+2430G>A	XP_011539831.1:n.-23+2430G>A
XM_011541529.2:c.-23+2430G>A	XP_011539831.1:n.-23+2430G>A
XM_017001390.2:c.-23+1151G>A	XP_016856879.1:n.-23+1151G>A
XM_017001391.1:c.-23+1151G>A	XP_016856880.1:n.-23+1151G>A
XM_017001392.2:c.-23+2430G>A	XP_016856881.1:n.-23+2430G>A