Canonical Allele Identifier: CA1557346

Gene: ASXL2

Linked Data

• dbSNP Id: rs780904802
• ExAC: 2:25965037 T / C
• gnomAD v2: 2-25965037-T-C
• gnomAD v4: 2-25742168-T-C
• MyVariant Identifiers: chr2:g.25965037T>C (hg19) ; chr2:g.25742168T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742168T>C , CM000664.2:g.25742168T>C	GRCh38
NC_000002.11:g.25965037T>C , CM000664.1:g.25965037T>C	GRCh37
NC_000002.10:g.25818541T>C	NCBI36
NG_052995.1:g.141349A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4166A>G	ENSP00000337250.5:p.Glu1389Gly
ENST00000435504.9:c.4169A>G MANE Select	ENSP00000391447.3:p.Glu1390Gly
ENST00000336112.8:c.4085A>G	ENSP00000337250.4:p.Glu1362Gly
ENST00000404843.5:c.2618A>G	ENSP00000383920.1:p.Glu873Gly
ENST00000435504.8:c.4169A>G	ENSP00000391447.3:p.Glu1390Gly
NM_018263.4:c.4169A>G	NP_060733.4:p.Glu1390Gly
XM_006712039.2:c.3803A>G	XP_006712102.1:p.Glu1268Gly
XM_006712040.1:c.3389A>G	XP_006712103.1:p.Glu1130Gly
XM_011532950.1:c.4166A>G	XP_011531252.1:p.Glu1389Gly
XM_011532951.1:c.3995A>G	XP_011531253.1:p.Glu1332Gly
NM_018263.5:c.4169A>G	NP_060733.4:p.Glu1390Gly
XM_006712039.3:c.3803A>G	XP_006712102.1:p.Glu1268Gly
XM_006712040.2:c.3389A>G	XP_006712103.1:p.Glu1130Gly
XM_011532950.3:c.4166A>G	XP_011531252.1:p.Glu1389Gly
XM_011532951.2:c.3995A>G	XP_011531253.1:p.Glu1332Gly
XM_017004430.1:c.3389A>G	XP_016859919.1:p.Glu1130Gly
XM_024452974.1:c.4349A>G	XP_024308742.1:p.Glu1450Gly
NM_001369346.1:c.3995A>G	NP_001356275.1:p.Glu1332Gly
NM_001369347.1:c.3389A>G	NP_001356276.1:p.Glu1130Gly
NM_018263.6:c.4169A>G MANE Select	NP_060733.4:p.Glu1390Gly