Canonical Allele Identifier: CA2594414441

Gene: ASXL2

Linked Data

• gnomAD v3: 2-25742412-GAAGGAGTA-G
• gnomAD v4: 2-25742412-GAAGGAGTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742413_25742420del , CM000664.2:g.25742413_25742420del	GRCh38
NC_000002.11:g.25965282_25965289del , CM000664.1:g.25965282_25965289del	GRCh37
NC_000002.10:g.25818786_25818793del	NCBI36
NG_052995.1:g.141097_141104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3914_3921del	ENSP00000337250.5:p.Leu1305ProfsTer20
ENST00000435504.9:c.3917_3924del MANE Select	ENSP00000391447.3:p.Leu1306ProfsTer20
ENST00000336112.8:c.3833_3840del	ENSP00000337250.4:p.Leu1278ProfsTer20
ENST00000404843.5:c.2366_2373del	ENSP00000383920.1:p.Leu789ProfsTer20
ENST00000435504.8:c.3917_3924del	ENSP00000391447.3:p.Leu1306ProfsTer20
NM_018263.4:c.3917_3924del	NP_060733.4:p.Leu1306ProfsTer20
XM_006712039.2:c.3551_3558del	XP_006712102.1:p.Leu1184ProfsTer20
XM_006712040.1:c.3137_3144del	XP_006712103.1:p.Leu1046ProfsTer20
XM_011532950.1:c.3914_3921del	XP_011531252.1:p.Leu1305ProfsTer20
XM_011532951.1:c.3743_3750del	XP_011531253.1:p.Leu1248ProfsTer20
NM_018263.5:c.3917_3924del	NP_060733.4:p.Leu1306ProfsTer20
XM_006712039.3:c.3551_3558del	XP_006712102.1:p.Leu1184ProfsTer20
XM_006712040.2:c.3137_3144del	XP_006712103.1:p.Leu1046ProfsTer20
XM_011532950.3:c.3914_3921del	XP_011531252.1:p.Leu1305ProfsTer20
XM_011532951.2:c.3743_3750del	XP_011531253.1:p.Leu1248ProfsTer20
XM_017004430.1:c.3137_3144del	XP_016859919.1:p.Leu1046ProfsTer20
XM_024452974.1:c.4097_4104del	XP_024308742.1:p.Leu1366ProfsTer20
NM_001369346.1:c.3743_3750del	NP_001356275.1:p.Leu1248ProfsTer20
NM_001369347.1:c.3137_3144del	NP_001356276.1:p.Leu1046ProfsTer20
NM_018263.6:c.3917_3924del MANE Select	NP_060733.4:p.Leu1306ProfsTer20