Canonical Allele Identifier: CA346081322

Gene: ASXL2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25744011T>G , CM000664.2:g.25744011T>G	GRCh38
NC_000002.11:g.25966880T>G , CM000664.1:g.25966880T>G	GRCh37
NC_000002.10:g.25820384T>G	NCBI36
NG_052995.1:g.139506A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018263.6:c.2326A>C MANE Select	NP_060733.4:p.Thr776Pro
ENST00000435504.9:c.2326A>C MANE Select	ENSP00000391447.3:p.Thr776Pro
NM_001369346.1:c.2152A>C	NP_001356275.1:p.Thr718Pro
NM_001369347.1:c.1546A>C	NP_001356276.1:p.Thr516Pro
NM_018263.4:c.2326A>C	NP_060733.4:p.Thr776Pro
NM_018263.5:c.2326A>C	NP_060733.4:p.Thr776Pro
ENST00000336112.8:c.2242A>C	ENSP00000337250.4:p.Thr748Pro
ENST00000336112.9:c.2323A>C	ENSP00000337250.5:p.Thr775Pro
ENST00000404843.5:c.1546A>C	ENSP00000383920.1:p.Thr516Pro
ENST00000435504.8:c.2326A>C	ENSP00000391447.3:p.Thr776Pro
ENST00000673455.1:c.1546A>C	ENSP00000500467.1:p.Thr516Pro
XM_006712039.2:c.1960A>C	XP_006712102.1:p.Thr654Pro
XM_006712039.3:c.1960A>C	XP_006712102.1:p.Thr654Pro
XM_006712040.1:c.1546A>C	XP_006712103.1:p.Thr516Pro
XM_006712040.2:c.1546A>C	XP_006712103.1:p.Thr516Pro
XM_011532950.1:c.2323A>C	XP_011531252.1:p.Thr775Pro
XM_011532950.3:c.2323A>C	XP_011531252.1:p.Thr775Pro
XM_011532951.1:c.2152A>C	XP_011531253.1:p.Thr718Pro
XM_011532951.2:c.2152A>C	XP_011531253.1:p.Thr718Pro
XM_017004430.1:c.1546A>C	XP_016859919.1:p.Thr516Pro
XM_024452974.1:c.2506A>C	XP_024308742.1:p.Thr836Pro