Canonical Allele Identifier: CA1557403

Gene: ASXL2

Linked Data

• dbSNP Id: rs375737665
• ExAC: 2:25965310 T / C
• gnomAD v3: 2-25742441-T-C
• gnomAD v4: 2-25742441-T-C
• MyVariant Identifiers: chr2:g.25965310T>C (hg19) ; chr2:g.25742441T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742441T>C , CM000664.2:g.25742441T>C	GRCh38
NC_000002.11:g.25965310T>C , CM000664.1:g.25965310T>C	GRCh37
NC_000002.10:g.25818814T>C	NCBI36
NG_052995.1:g.141076A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3893A>G	ENSP00000337250.5:p.Asp1298Gly
ENST00000435504.9:c.3896A>G MANE Select	ENSP00000391447.3:p.Asp1299Gly
ENST00000336112.8:c.3812A>G	ENSP00000337250.4:p.Asp1271Gly
ENST00000404843.5:c.2345A>G	ENSP00000383920.1:p.Asp782Gly
ENST00000435504.8:c.3896A>G	ENSP00000391447.3:p.Asp1299Gly
NM_018263.4:c.3896A>G	NP_060733.4:p.Asp1299Gly
XM_006712039.2:c.3530A>G	XP_006712102.1:p.Asp1177Gly
XM_006712040.1:c.3116A>G	XP_006712103.1:p.Asp1039Gly
XM_011532950.1:c.3893A>G	XP_011531252.1:p.Asp1298Gly
XM_011532951.1:c.3722A>G	XP_011531253.1:p.Asp1241Gly
NM_018263.5:c.3896A>G	NP_060733.4:p.Asp1299Gly
XM_006712039.3:c.3530A>G	XP_006712102.1:p.Asp1177Gly
XM_006712040.2:c.3116A>G	XP_006712103.1:p.Asp1039Gly
XM_011532950.3:c.3893A>G	XP_011531252.1:p.Asp1298Gly
XM_011532951.2:c.3722A>G	XP_011531253.1:p.Asp1241Gly
XM_017004430.1:c.3116A>G	XP_016859919.1:p.Asp1039Gly
XM_024452974.1:c.4076A>G	XP_024308742.1:p.Asp1359Gly
NM_001369346.1:c.3722A>G	NP_001356275.1:p.Asp1241Gly
NM_001369347.1:c.3116A>G	NP_001356276.1:p.Asp1039Gly
NM_018263.6:c.3896A>G MANE Select	NP_060733.4:p.Asp1299Gly