Canonical Allele Identifier: CA370690882

Gene: ASH2L

Linked Data

• MyVariant Identifiers: chr8:g.37996335T>A (hg19) ; chr8:g.38138817T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138817T>A , CM000670.2:g.38138817T>A	GRCh38
NC_000008.10:g.37996335T>A , CM000670.1:g.37996335T>A	GRCh37
NC_000008.9:g.38115492T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1721T>A MANE Select	ENSP00000340896.5:p.Val574Asp
ENST00000343823.10:c.1721T>A	ENSP00000340896.5:p.Val574Asp
ENST00000428278.6:c.1439T>A	ENSP00000395310.2:p.Val480Asp
ENST00000517496.5:c.*1209T>A	ENSP00000430889.1:n.*1209T>A
ENST00000520079.1:n.1323T>A
ENST00000521652.5:c.1340T>A	ENSP00000430259.1:p.Val447Asp
ENST00000521808.5:c.105T>A
ENST00000524247.5:c.507T>A
ENST00000545394.2:c.1304T>A	ENSP00000443606.1:p.Val435Asp
NM_001105214.2:c.1439T>A	NP_001098684.1:p.Val480Asp
NM_001261832.1:c.1340T>A	NP_001248761.1:p.Val447Asp
NM_001282272.1:c.1304T>A	NP_001269201.1:p.Val435Asp
NM_004674.4:c.1721T>A	NP_004665.2:p.Val574Asp
XM_005273682.1:c.1739T>A	XP_005273739.1:p.Val580Asp
XM_005273683.1:c.1457T>A	XP_005273740.1:p.Val486Asp
XM_006716412.1:c.1640T>A	XP_006716475.1:p.Val547Asp
XM_006716413.1:c.1622T>A	XP_006716476.1:p.Val541Asp
XM_006716413.3:c.1622T>A	XP_006716476.1:p.Val541Asp
NM_004674.5:c.1721T>A MANE Select	NP_004665.2:p.Val574Asp