Canonical Allele Identifier: CA346075573

Gene: ASXL2

Linked Data

• MyVariant Identifiers: chr2:g.25965346T>G (hg19) ; chr2:g.25742477T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742477T>G , CM000664.2:g.25742477T>G	GRCh38
NC_000002.11:g.25965346T>G , CM000664.1:g.25965346T>G	GRCh37
NC_000002.10:g.25818850T>G	NCBI36
NG_052995.1:g.141040A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3857A>C	ENSP00000337250.5:p.Glu1286Ala
ENST00000435504.9:c.3860A>C MANE Select	ENSP00000391447.3:p.Glu1287Ala
ENST00000336112.8:c.3776A>C	ENSP00000337250.4:p.Glu1259Ala
ENST00000404843.5:c.2309A>C	ENSP00000383920.1:p.Glu770Ala
ENST00000435504.8:c.3860A>C	ENSP00000391447.3:p.Glu1287Ala
NM_018263.4:c.3860A>C	NP_060733.4:p.Glu1287Ala
XM_006712039.2:c.3494A>C	XP_006712102.1:p.Glu1165Ala
XM_006712040.1:c.3080A>C	XP_006712103.1:p.Glu1027Ala
XM_011532950.1:c.3857A>C	XP_011531252.1:p.Glu1286Ala
XM_011532951.1:c.3686A>C	XP_011531253.1:p.Glu1229Ala
NM_018263.5:c.3860A>C	NP_060733.4:p.Glu1287Ala
XM_006712039.3:c.3494A>C	XP_006712102.1:p.Glu1165Ala
XM_006712040.2:c.3080A>C	XP_006712103.1:p.Glu1027Ala
XM_011532950.3:c.3857A>C	XP_011531252.1:p.Glu1286Ala
XM_011532951.2:c.3686A>C	XP_011531253.1:p.Glu1229Ala
XM_017004430.1:c.3080A>C	XP_016859919.1:p.Glu1027Ala
XM_024452974.1:c.4040A>C	XP_024308742.1:p.Glu1347Ala
NM_001369346.1:c.3686A>C	NP_001356275.1:p.Glu1229Ala
NM_001369347.1:c.3080A>C	NP_001356276.1:p.Glu1027Ala
NM_018263.6:c.3860A>C MANE Select	NP_060733.4:p.Glu1287Ala