Canonical Allele Identifier: CA2594414443

Gene: ASXL2

Linked Data

• gnomAD v3: 2-25742424-GCTGGT-G
• gnomAD v4: 2-25742424-GCTGGT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742425_25742429del , CM000664.2:g.25742425_25742429del	GRCh38
NC_000002.11:g.25965294_25965298del , CM000664.1:g.25965294_25965298del	GRCh37
NC_000002.10:g.25818798_25818802del	NCBI36
NG_052995.1:g.141088_141092del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3905_3909del	ENSP00000337250.5:p.His1302ProfsTer24
ENST00000435504.9:c.3908_3912del MANE Select	ENSP00000391447.3:p.His1303ProfsTer24
ENST00000336112.8:c.3824_3828del	ENSP00000337250.4:p.His1275ProfsTer24
ENST00000404843.5:c.2357_2361del	ENSP00000383920.1:p.His786ProfsTer24
ENST00000435504.8:c.3908_3912del	ENSP00000391447.3:p.His1303ProfsTer24
NM_018263.4:c.3908_3912del	NP_060733.4:p.His1303ProfsTer24
XM_006712039.2:c.3542_3546del	XP_006712102.1:p.His1181ProfsTer24
XM_006712040.1:c.3128_3132del	XP_006712103.1:p.His1043ProfsTer24
XM_011532950.1:c.3905_3909del	XP_011531252.1:p.His1302ProfsTer24
XM_011532951.1:c.3734_3738del	XP_011531253.1:p.His1245ProfsTer24
NM_018263.5:c.3908_3912del	NP_060733.4:p.His1303ProfsTer24
XM_006712039.3:c.3542_3546del	XP_006712102.1:p.His1181ProfsTer24
XM_006712040.2:c.3128_3132del	XP_006712103.1:p.His1043ProfsTer24
XM_011532950.3:c.3905_3909del	XP_011531252.1:p.His1302ProfsTer24
XM_011532951.2:c.3734_3738del	XP_011531253.1:p.His1245ProfsTer24
XM_017004430.1:c.3128_3132del	XP_016859919.1:p.His1043ProfsTer24
XM_024452974.1:c.4088_4092del	XP_024308742.1:p.His1363ProfsTer24
NM_001369346.1:c.3734_3738del	NP_001356275.1:p.His1245ProfsTer24
NM_001369347.1:c.3128_3132del	NP_001356276.1:p.His1043ProfsTer24
NM_018263.6:c.3908_3912del MANE Select	NP_060733.4:p.His1303ProfsTer24