Canonical Allele Identifier: CA1112881200

Gene: ASH2L

Linked Data

• dbSNP Id: rs2720044
• gnomAD v3: 8-38123069-A-T
• gnomAD v4: 8-38123069-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38123069A>T , CM000670.2:g.38123069A>T	GRCh38
NC_000008.10:g.37980587A>T , CM000670.1:g.37980587A>T	GRCh37
NC_000008.9:g.38099744A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000343823.11:c.1165+1920A>T MANE Select	ENSP00000340896.5:n.1165+1920A>T
ENST00000343823.10:c.1165+1920A>T	ENSP00000340896.5:n.1165+1920A>T
ENST00000428278.6:c.883+1920A>T	ENSP00000395310.2:n.883+1920A>T
ENST00000517496.5:c.*653+1920A>T	ENSP00000430889.1:n.*653+1920A>T
ENST00000518186.1:n.487+1920A>T
ENST00000521652.5:c.883+1920A>T	ENSP00000430259.1:n.883+1920A>T
ENST00000545394.2:c.748+1920A>T	ENSP00000443606.1:n.748+1920A>T
NM_001105214.2:c.883+1920A>T	NP_001098684.1:n.883+1920A>T
NM_001261832.1:c.883+1920A>T	NP_001248761.1:n.883+1920A>T
NM_001282272.1:c.748+1920A>T	NP_001269201.1:n.748+1920A>T
NM_004674.4:c.1165+1920A>T	NP_004665.2:n.1165+1920A>T
XM_005273682.1:c.1183+1920A>T	XP_005273739.1:n.1183+1920A>T
XM_005273683.1:c.901+1920A>T	XP_005273740.1:n.901+1920A>T
XM_006716412.1:c.1183+1920A>T	XP_006716475.1:n.1183+1920A>T
XM_006716413.1:c.1165+1920A>T	XP_006716476.1:n.1165+1920A>T
XM_006716413.3:c.1165+1920A>T	XP_006716476.1:n.1165+1920A>T
NM_004674.5:c.1165+1920A>T MANE Select	NP_004665.2:n.1165+1920A>T