Canonical Allele Identifier: CA4715053

Gene: ASH2L

Linked Data

• dbSNP Id: rs760478447
• ExAC: 8:37996316 G / C
• gnomAD v2: 8-37996316-G-C
• gnomAD v4: 8-38138798-G-C
• MyVariant Identifiers: chr8:g.37996316G>C (hg19) ; chr8:g.38138798G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.38138798G>C , CM000670.2:g.38138798G>C	GRCh38
NC_000008.10:g.37996316G>C , CM000670.1:g.37996316G>C	GRCh37
NC_000008.9:g.38115473G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343823.11:c.1720-18G>C MANE Select	ENSP00000340896.5:n.1720-18G>C
ENST00000343823.10:c.1720-18G>C	ENSP00000340896.5:n.1720-18G>C
ENST00000428278.6:c.1438-18G>C	ENSP00000395310.2:n.1438-18G>C
ENST00000517496.5:c.*1208-18G>C	ENSP00000430889.1:n.*1208-18G>C
ENST00000520079.1:n.1304G>C
ENST00000521652.5:c.1339-18G>C	ENSP00000430259.1:n.1339-18G>C
ENST00000521808.5:c.104-18G>C
ENST00000524247.5:c.506-18G>C
ENST00000545394.2:c.1303-18G>C	ENSP00000443606.1:n.1303-18G>C
NM_001105214.2:c.1438-18G>C	NP_001098684.1:n.1438-18G>C
NM_001261832.1:c.1339-18G>C	NP_001248761.1:n.1339-18G>C
NM_001282272.1:c.1303-18G>C	NP_001269201.1:n.1303-18G>C
NM_004674.4:c.1720-18G>C	NP_004665.2:n.1720-18G>C
XM_005273682.1:c.1738-18G>C	XP_005273739.1:n.1738-18G>C
XM_005273683.1:c.1456-18G>C	XP_005273740.1:n.1456-18G>C
XM_006716412.1:c.1639-18G>C	XP_006716475.1:n.1639-18G>C
XM_006716413.1:c.1621-18G>C	XP_006716476.1:n.1621-18G>C
XM_006716413.3:c.1621-18G>C	XP_006716476.1:n.1621-18G>C
NM_004674.5:c.1720-18G>C MANE Select	NP_004665.2:n.1720-18G>C