Canonical Allele Identifier: CA370690920

Gene: ASH2L

Linked Data

• MyVariant Identifiers: chr8:g.37996338C>A (hg19) ; chr8:g.38138820C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138820C>A , CM000670.2:g.38138820C>A	GRCh38
NC_000008.10:g.37996338C>A , CM000670.1:g.37996338C>A	GRCh37
NC_000008.9:g.38115495C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1724C>A MANE Select	ENSP00000340896.5:p.Ser575Tyr
ENST00000343823.10:c.1724C>A	ENSP00000340896.5:p.Ser575Tyr
ENST00000428278.6:c.1442C>A	ENSP00000395310.2:p.Ser481Tyr
ENST00000517496.5:c.*1212C>A	ENSP00000430889.1:n.*1212C>A
ENST00000520079.1:n.1326C>A
ENST00000521652.5:c.1343C>A	ENSP00000430259.1:p.Ser448Tyr
ENST00000521808.5:c.108C>A
ENST00000524247.5:c.510C>A
ENST00000545394.2:c.1307C>A	ENSP00000443606.1:p.Ser436Tyr
NM_001105214.2:c.1442C>A	NP_001098684.1:p.Ser481Tyr
NM_001261832.1:c.1343C>A	NP_001248761.1:p.Ser448Tyr
NM_001282272.1:c.1307C>A	NP_001269201.1:p.Ser436Tyr
NM_004674.4:c.1724C>A	NP_004665.2:p.Ser575Tyr
XM_005273682.1:c.1742C>A	XP_005273739.1:p.Ser581Tyr
XM_005273683.1:c.1460C>A	XP_005273740.1:p.Ser487Tyr
XM_006716412.1:c.1643C>A	XP_006716475.1:p.Ser548Tyr
XM_006716413.1:c.1625C>A	XP_006716476.1:p.Ser542Tyr
XM_006716413.3:c.1625C>A	XP_006716476.1:p.Ser542Tyr
NM_004674.5:c.1724C>A MANE Select	NP_004665.2:p.Ser575Tyr