Canonical Allele Identifier: CA1557414

Gene: ASXL2

Linked Data

• dbSNP Id: rs572342520
• ExAC: 2:25965358 C / A
• gnomAD v2: 2-25965358-C-A
• gnomAD v4: 2-25742489-C-A
• MyVariant Identifiers: chr2:g.25965358C>A (hg19) ; chr2:g.25742489C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742489C>A , CM000664.2:g.25742489C>A	GRCh38
NC_000002.11:g.25965358C>A , CM000664.1:g.25965358C>A	GRCh37
NC_000002.10:g.25818862C>A	NCBI36
NG_052995.1:g.141028G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3845G>T	ENSP00000337250.5:p.Arg1282Leu
ENST00000435504.9:c.3848G>T MANE Select	ENSP00000391447.3:p.Arg1283Leu
ENST00000336112.8:c.3764G>T	ENSP00000337250.4:p.Arg1255Leu
ENST00000404843.5:c.2297G>T	ENSP00000383920.1:p.Arg766Leu
ENST00000435504.8:c.3848G>T	ENSP00000391447.3:p.Arg1283Leu
NM_018263.4:c.3848G>T	NP_060733.4:p.Arg1283Leu
XM_006712039.2:c.3482G>T	XP_006712102.1:p.Arg1161Leu
XM_006712040.1:c.3068G>T	XP_006712103.1:p.Arg1023Leu
XM_011532950.1:c.3845G>T	XP_011531252.1:p.Arg1282Leu
XM_011532951.1:c.3674G>T	XP_011531253.1:p.Arg1225Leu
NM_018263.5:c.3848G>T	NP_060733.4:p.Arg1283Leu
XM_006712039.3:c.3482G>T	XP_006712102.1:p.Arg1161Leu
XM_006712040.2:c.3068G>T	XP_006712103.1:p.Arg1023Leu
XM_011532950.3:c.3845G>T	XP_011531252.1:p.Arg1282Leu
XM_011532951.2:c.3674G>T	XP_011531253.1:p.Arg1225Leu
XM_017004430.1:c.3068G>T	XP_016859919.1:p.Arg1023Leu
XM_024452974.1:c.4028G>T	XP_024308742.1:p.Arg1343Leu
NM_001369346.1:c.3674G>T	NP_001356275.1:p.Arg1225Leu
NM_001369347.1:c.3068G>T	NP_001356276.1:p.Arg1023Leu
NM_018263.6:c.3848G>T MANE Select	NP_060733.4:p.Arg1283Leu