Canonical Allele Identifier: CA1557347

Gene: ASXL2

Linked Data

• dbSNP Id: rs752619832
• ExAC: 2:25965038 C / T
• gnomAD v2: 2-25965038-C-T
• gnomAD v3: 2-25742169-C-T
• gnomAD v4: 2-25742169-C-T
• MyVariant Identifiers: chr2:g.25965038C>T (hg19) ; chr2:g.25742169C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742169C>T , CM000664.2:g.25742169C>T	GRCh38
NC_000002.11:g.25965038C>T , CM000664.1:g.25965038C>T	GRCh37
NC_000002.10:g.25818542C>T	NCBI36
NG_052995.1:g.141348G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4165G>A	ENSP00000337250.5:p.Glu1389Lys
ENST00000435504.9:c.4168G>A MANE Select	ENSP00000391447.3:p.Glu1390Lys
ENST00000336112.8:c.4084G>A	ENSP00000337250.4:p.Glu1362Lys
ENST00000404843.5:c.2617G>A	ENSP00000383920.1:p.Glu873Lys
ENST00000435504.8:c.4168G>A	ENSP00000391447.3:p.Glu1390Lys
NM_018263.4:c.4168G>A	NP_060733.4:p.Glu1390Lys
XM_006712039.2:c.3802G>A	XP_006712102.1:p.Glu1268Lys
XM_006712040.1:c.3388G>A	XP_006712103.1:p.Glu1130Lys
XM_011532950.1:c.4165G>A	XP_011531252.1:p.Glu1389Lys
XM_011532951.1:c.3994G>A	XP_011531253.1:p.Glu1332Lys
NM_018263.5:c.4168G>A	NP_060733.4:p.Glu1390Lys
XM_006712039.3:c.3802G>A	XP_006712102.1:p.Glu1268Lys
XM_006712040.2:c.3388G>A	XP_006712103.1:p.Glu1130Lys
XM_011532950.3:c.4165G>A	XP_011531252.1:p.Glu1389Lys
XM_011532951.2:c.3994G>A	XP_011531253.1:p.Glu1332Lys
XM_017004430.1:c.3388G>A	XP_016859919.1:p.Glu1130Lys
XM_024452974.1:c.4348G>A	XP_024308742.1:p.Glu1450Lys
NM_001369346.1:c.3994G>A	NP_001356275.1:p.Glu1332Lys
NM_001369347.1:c.3388G>A	NP_001356276.1:p.Glu1130Lys
NM_018263.6:c.4168G>A MANE Select	NP_060733.4:p.Glu1390Lys