Canonical Allele Identifier: CA1557316

Gene: ASXL2

Linked Data

• dbSNP Id: rs542810776
• ExAC: 2:25964902 C / A
• gnomAD v2: 2-25964902-C-A
• gnomAD v3: 2-25742033-C-A
• gnomAD v4: 2-25742033-C-A
• MyVariant Identifiers: chr2:g.25964902C>A (hg19) ; chr2:g.25742033C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742033C>A , CM000664.2:g.25742033C>A	GRCh38
NC_000002.11:g.25964902C>A , CM000664.1:g.25964902C>A	GRCh37
NC_000002.10:g.25818406C>A	NCBI36
NG_052995.1:g.141484G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4301G>T	ENSP00000337250.5:p.Arg1434Leu
ENST00000435504.9:c.4304G>T MANE Select	ENSP00000391447.3:p.Arg1435Leu
ENST00000336112.8:c.4220G>T	ENSP00000337250.4:p.Arg1407Leu
ENST00000404843.5:c.2753G>T	ENSP00000383920.1:p.Arg918Leu
ENST00000435504.8:c.4304G>T	ENSP00000391447.3:p.Arg1435Leu
NM_018263.4:c.4304G>T	NP_060733.4:p.Arg1435Leu
XM_006712039.2:c.3938G>T	XP_006712102.1:p.Arg1313Leu
XM_006712040.1:c.3524G>T	XP_006712103.1:p.Arg1175Leu
XM_011532950.1:c.4301G>T	XP_011531252.1:p.Arg1434Leu
XM_011532951.1:c.4130G>T	XP_011531253.1:p.Arg1377Leu
NM_018263.5:c.4304G>T	NP_060733.4:p.Arg1435Leu
XM_006712039.3:c.3938G>T	XP_006712102.1:p.Arg1313Leu
XM_006712040.2:c.3524G>T	XP_006712103.1:p.Arg1175Leu
XM_011532950.3:c.4301G>T	XP_011531252.1:p.Arg1434Leu
XM_011532951.2:c.4130G>T	XP_011531253.1:p.Arg1377Leu
XM_017004430.1:c.3524G>T	XP_016859919.1:p.Arg1175Leu
XM_024452974.1:c.4484G>T	XP_024308742.1:p.Arg1495Leu
NM_001369346.1:c.4130G>T	NP_001356275.1:p.Arg1377Leu
NM_001369347.1:c.3524G>T	NP_001356276.1:p.Arg1175Leu
NM_018263.6:c.4304G>T MANE Select	NP_060733.4:p.Arg1435Leu