Canonical Allele Identifier: CA2658189303

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742462-G-GTAGAACTGAAAAGCTCGGGGCTGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742465_25742488dup , CM000664.2:g.25742465_25742488dup	GRCh38
NC_000002.11:g.25965334_25965357dup , CM000664.1:g.25965334_25965357dup	GRCh37
NC_000002.10:g.25818838_25818861dup	NCBI36
NG_052995.1:g.141031_141054dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3848_3871dup	ENSP00000337250.5:p.Ser1290_Thr1291insSerSerProGluLeuPheSerSe...
ENST00000435504.9:c.3851_3874dup MANE Select	ENSP00000391447.3:p.Ser1291_Thr1292insSerSerProGluLeuPheSerSe...
ENST00000336112.8:c.3767_3790dup	ENSP00000337250.4:p.Ser1263_Thr1264insSerSerProGluLeuPheSerSe...
ENST00000404843.5:c.2300_2323dup	ENSP00000383920.1:p.Ser774_Thr775insSerSerProGluLeuPheSerSer
ENST00000435504.8:c.3851_3874dup	ENSP00000391447.3:p.Ser1291_Thr1292insSerSerProGluLeuPheSerSe...
NM_018263.4:c.3851_3874dup	NP_060733.4:p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer
XM_006712039.2:c.3485_3508dup	XP_006712102.1:p.Ser1169_Thr1170insSerSerProGluLeuPheSerSer
XM_006712040.1:c.3071_3094dup	XP_006712103.1:p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer
XM_011532950.1:c.3848_3871dup	XP_011531252.1:p.Ser1290_Thr1291insSerSerProGluLeuPheSerSer
XM_011532951.1:c.3677_3700dup	XP_011531253.1:p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer
NM_018263.5:c.3851_3874dup	NP_060733.4:p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer
XM_006712039.3:c.3485_3508dup	XP_006712102.1:p.Ser1169_Thr1170insSerSerProGluLeuPheSerSer
XM_006712040.2:c.3071_3094dup	XP_006712103.1:p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer
XM_011532950.3:c.3848_3871dup	XP_011531252.1:p.Ser1290_Thr1291insSerSerProGluLeuPheSerSer
XM_011532951.2:c.3677_3700dup	XP_011531253.1:p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer
XM_017004430.1:c.3071_3094dup	XP_016859919.1:p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer
XM_024452974.1:c.4031_4054dup	XP_024308742.1:p.Ser1351_Thr1352insSerSerProGluLeuPheSerSer
NM_001369346.1:c.3677_3700dup	NP_001356275.1:p.Ser1233_Thr1234insSerSerProGluLeuPheSerSer
NM_001369347.1:c.3071_3094dup	NP_001356276.1:p.Ser1031_Thr1032insSerSerProGluLeuPheSerSer
NM_018263.6:c.3851_3874dup MANE Select	NP_060733.4:p.Ser1291_Thr1292insSerSerProGluLeuPheSerSer