Canonical Allele Identifier: CA2658189297

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742416-GAGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742417_25742420del , CM000664.2:g.25742417_25742420del	GRCh38
NC_000002.11:g.25965286_25965289del , CM000664.1:g.25965286_25965289del	GRCh37
NC_000002.10:g.25818790_25818793del	NCBI36
NG_052995.1:g.141097_141100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3914_3917del	ENSP00000337250.5:p.Leu1305ProfsTer17
ENST00000435504.9:c.3917_3920del MANE Select	ENSP00000391447.3:p.Leu1306ProfsTer17
ENST00000336112.8:c.3833_3836del	ENSP00000337250.4:p.Leu1278ProfsTer17
ENST00000404843.5:c.2366_2369del	ENSP00000383920.1:p.Leu789ProfsTer17
ENST00000435504.8:c.3917_3920del	ENSP00000391447.3:p.Leu1306ProfsTer17
NM_018263.4:c.3917_3920del	NP_060733.4:p.Leu1306ProfsTer17
XM_006712039.2:c.3551_3554del	XP_006712102.1:p.Leu1184ProfsTer17
XM_006712040.1:c.3137_3140del	XP_006712103.1:p.Leu1046ProfsTer17
XM_011532950.1:c.3914_3917del	XP_011531252.1:p.Leu1305ProfsTer17
XM_011532951.1:c.3743_3746del	XP_011531253.1:p.Leu1248ProfsTer17
NM_018263.5:c.3917_3920del	NP_060733.4:p.Leu1306ProfsTer17
XM_006712039.3:c.3551_3554del	XP_006712102.1:p.Leu1184ProfsTer17
XM_006712040.2:c.3137_3140del	XP_006712103.1:p.Leu1046ProfsTer17
XM_011532950.3:c.3914_3917del	XP_011531252.1:p.Leu1305ProfsTer17
XM_011532951.2:c.3743_3746del	XP_011531253.1:p.Leu1248ProfsTer17
XM_017004430.1:c.3137_3140del	XP_016859919.1:p.Leu1046ProfsTer17
XM_024452974.1:c.4097_4100del	XP_024308742.1:p.Leu1366ProfsTer17
NM_001369346.1:c.3743_3746del	NP_001356275.1:p.Leu1248ProfsTer17
NM_001369347.1:c.3137_3140del	NP_001356276.1:p.Leu1046ProfsTer17
NM_018263.6:c.3917_3920del MANE Select	NP_060733.4:p.Leu1306ProfsTer17