Canonical Allele Identifier: CA1557326

Gene: ASXL2

Linked Data

• dbSNP Id: rs779368997
• ExAC: 2:25964953 T / C
• gnomAD v2: 2-25964953-T-C
• gnomAD v4: 2-25742084-T-C
• MyVariant Identifiers: chr2:g.25964953T>C (hg19) ; chr2:g.25742084T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742084T>C , CM000664.2:g.25742084T>C	GRCh38
NC_000002.11:g.25964953T>C , CM000664.1:g.25964953T>C	GRCh37
NC_000002.10:g.25818457T>C	NCBI36
NG_052995.1:g.141433A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4250A>G	ENSP00000337250.5:p.His1417Arg
ENST00000435504.9:c.4253A>G MANE Select	ENSP00000391447.3:p.His1418Arg
ENST00000336112.8:c.4169A>G	ENSP00000337250.4:p.His1390Arg
ENST00000404843.5:c.2702A>G	ENSP00000383920.1:p.His901Arg
ENST00000435504.8:c.4253A>G	ENSP00000391447.3:p.His1418Arg
NM_018263.4:c.4253A>G	NP_060733.4:p.His1418Arg
XM_006712039.2:c.3887A>G	XP_006712102.1:p.His1296Arg
XM_006712040.1:c.3473A>G	XP_006712103.1:p.His1158Arg
XM_011532950.1:c.4250A>G	XP_011531252.1:p.His1417Arg
XM_011532951.1:c.4079A>G	XP_011531253.1:p.His1360Arg
NM_018263.5:c.4253A>G	NP_060733.4:p.His1418Arg
XM_006712039.3:c.3887A>G	XP_006712102.1:p.His1296Arg
XM_006712040.2:c.3473A>G	XP_006712103.1:p.His1158Arg
XM_011532950.3:c.4250A>G	XP_011531252.1:p.His1417Arg
XM_011532951.2:c.4079A>G	XP_011531253.1:p.His1360Arg
XM_017004430.1:c.3473A>G	XP_016859919.1:p.His1158Arg
XM_024452974.1:c.4433A>G	XP_024308742.1:p.His1478Arg
NM_001369346.1:c.4079A>G	NP_001356275.1:p.His1360Arg
NM_001369347.1:c.3473A>G	NP_001356276.1:p.His1158Arg
NM_018263.6:c.4253A>G MANE Select	NP_060733.4:p.His1418Arg