Canonical Allele Identifier: CA370690879

Gene: ASH2L

Linked Data

• MyVariant Identifiers: chr8:g.37996334G>T (hg19) ; chr8:g.38138816G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138816G>T , CM000670.2:g.38138816G>T	GRCh38
NC_000008.10:g.37996334G>T , CM000670.1:g.37996334G>T	GRCh37
NC_000008.9:g.38115491G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1720G>T MANE Select	ENSP00000340896.5:p.Val574Phe
ENST00000343823.10:c.1720G>T	ENSP00000340896.5:p.Val574Phe
ENST00000428278.6:c.1438G>T	ENSP00000395310.2:p.Val480Phe
ENST00000517496.5:c.*1208G>T	ENSP00000430889.1:n.*1208G>T
ENST00000520079.1:n.1322G>T
ENST00000521652.5:c.1339G>T	ENSP00000430259.1:p.Val447Phe
ENST00000521808.5:c.104G>T
ENST00000524247.5:c.506G>T
ENST00000545394.2:c.1303G>T	ENSP00000443606.1:p.Val435Phe
NM_001105214.2:c.1438G>T	NP_001098684.1:p.Val480Phe
NM_001261832.1:c.1339G>T	NP_001248761.1:p.Val447Phe
NM_001282272.1:c.1303G>T	NP_001269201.1:p.Val435Phe
NM_004674.4:c.1720G>T	NP_004665.2:p.Val574Phe
XM_005273682.1:c.1738G>T	XP_005273739.1:p.Val580Phe
XM_005273683.1:c.1456G>T	XP_005273740.1:p.Val486Phe
XM_006716412.1:c.1639G>T	XP_006716475.1:p.Val547Phe
XM_006716413.1:c.1621G>T	XP_006716476.1:p.Val541Phe
XM_006716413.3:c.1621G>T	XP_006716476.1:p.Val541Phe
NM_004674.5:c.1720G>T MANE Select	NP_004665.2:p.Val574Phe