Canonical Allele Identifier: CA28685564

Gene: AMPD2 GNAT2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109619696G>C , CM000663.2:g.109619696G>C	GRCh38
NC_000001.10:g.110162318G>C , CM000663.1:g.110162318G>C	GRCh37
NC_000001.9:g.109963841G>C	NCBI36
NG_034075.1:g.4884G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000531734.6:c.-129-444G>C (AMPD2)	ENSP00000433739.2:n.-129-444G>C
ENST00000655992.1:c.-241+40G>C (AMPD2)	ENSP00000499740.1:n.-241+40G>C
ENST00000526301.5:n.153+40G>C (AMPD2)
ENST00000531734.5:c.-129-444G>C (AMPD2)	ENSP00000433739.1:n.-129-444G>C
ENST00000622865.1:c.-54+192C>G (GNAT2)	ENSP00000482596.1:n.-54+192C>G
XM_011541247.1:c.15G>C (AMPD2)	XP_011539549.1:p.Thr5=
XM_011541248.1:c.15G>C (AMPD2)	XP_011539550.1:p.Thr5=
XR_946607.1:n.38G>C (AMPD2)
XM_011541264.2:c.-267C>G (GNAT2)	XP_011539566.1:n.-267C>G