Canonical Allele Identifier: CA1557418

Gene: ASXL2

Linked Data

• dbSNP Id: rs375656900
• ExAC: 2:25965383 G / A
• gnomAD v2: 2-25965383-G-A
• gnomAD v3: 2-25742514-G-A
• gnomAD v4: 2-25742514-G-A
• MyVariant Identifiers: chr2:g.25965383G>A (hg19) ; chr2:g.25742514G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742514G>A , CM000664.2:g.25742514G>A	GRCh38
NC_000002.11:g.25965383G>A , CM000664.1:g.25965383G>A	GRCh37
NC_000002.10:g.25818887G>A	NCBI36
NG_052995.1:g.141003C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3820C>T	ENSP00000337250.5:p.His1274Tyr
ENST00000435504.9:c.3823C>T MANE Select	ENSP00000391447.3:p.His1275Tyr
ENST00000336112.8:c.3739C>T	ENSP00000337250.4:p.His1247Tyr
ENST00000404843.5:c.2272C>T	ENSP00000383920.1:p.His758Tyr
ENST00000435504.8:c.3823C>T	ENSP00000391447.3:p.His1275Tyr
NM_018263.4:c.3823C>T	NP_060733.4:p.His1275Tyr
XM_006712039.2:c.3457C>T	XP_006712102.1:p.His1153Tyr
XM_006712040.1:c.3043C>T	XP_006712103.1:p.His1015Tyr
XM_011532950.1:c.3820C>T	XP_011531252.1:p.His1274Tyr
XM_011532951.1:c.3649C>T	XP_011531253.1:p.His1217Tyr
NM_018263.5:c.3823C>T	NP_060733.4:p.His1275Tyr
XM_006712039.3:c.3457C>T	XP_006712102.1:p.His1153Tyr
XM_006712040.2:c.3043C>T	XP_006712103.1:p.His1015Tyr
XM_011532950.3:c.3820C>T	XP_011531252.1:p.His1274Tyr
XM_011532951.2:c.3649C>T	XP_011531253.1:p.His1217Tyr
XM_017004430.1:c.3043C>T	XP_016859919.1:p.His1015Tyr
XM_024452974.1:c.4003C>T	XP_024308742.1:p.His1335Tyr
NM_001369346.1:c.3649C>T	NP_001356275.1:p.His1217Tyr
NM_001369347.1:c.3043C>T	NP_001356276.1:p.His1015Tyr
NM_018263.6:c.3823C>T MANE Select	NP_060733.4:p.His1275Tyr