Canonical Allele Identifier: CA4715050

Gene: ASH2L

Linked Data

• dbSNP Id: rs370082315
• ExAC: 8:37996296 C / A
• gnomAD v2: 8-37996296-C-A
• gnomAD v3: 8-38138778-C-A
• gnomAD v4: 8-38138778-C-A
• MyVariant Identifiers: chr8:g.37996296C>A (hg19) ; chr8:g.38138778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138778C>A , CM000670.2:g.38138778C>A	GRCh38
NC_000008.10:g.37996296C>A , CM000670.1:g.37996296C>A	GRCh37
NC_000008.9:g.38115453C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1720-38C>A MANE Select	ENSP00000340896.5:n.1720-38C>A
ENST00000343823.10:c.1720-38C>A	ENSP00000340896.5:n.1720-38C>A
ENST00000428278.6:c.1438-38C>A	ENSP00000395310.2:n.1438-38C>A
ENST00000517496.5:c.*1208-38C>A	ENSP00000430889.1:n.*1208-38C>A
ENST00000520079.1:n.1284C>A
ENST00000521652.5:c.1339-38C>A	ENSP00000430259.1:n.1339-38C>A
ENST00000521808.5:c.104-38C>A
ENST00000524247.5:c.506-38C>A
ENST00000545394.2:c.1303-38C>A	ENSP00000443606.1:n.1303-38C>A
NM_001105214.2:c.1438-38C>A	NP_001098684.1:n.1438-38C>A
NM_001261832.1:c.1339-38C>A	NP_001248761.1:n.1339-38C>A
NM_001282272.1:c.1303-38C>A	NP_001269201.1:n.1303-38C>A
NM_004674.4:c.1720-38C>A	NP_004665.2:n.1720-38C>A
XM_005273682.1:c.1738-38C>A	XP_005273739.1:n.1738-38C>A
XM_005273683.1:c.1456-38C>A	XP_005273740.1:n.1456-38C>A
XM_006716412.1:c.1639-38C>A	XP_006716475.1:n.1639-38C>A
XM_006716413.1:c.1621-38C>A	XP_006716476.1:n.1621-38C>A
XM_006716413.3:c.1621-38C>A	XP_006716476.1:n.1621-38C>A
NM_004674.5:c.1720-38C>A MANE Select	NP_004665.2:n.1720-38C>A