Canonical Allele Identifier: CA346075754

Gene: ASXL2

Linked Data

• dbSNP Id: rs1323068351
• gnomAD v2: 2-25965373-C-G
• gnomAD v3: 2-25742504-C-G
• gnomAD v4: 2-25742504-C-G
• MyVariant Identifiers: chr2:g.25965373C>G (hg19) ; chr2:g.25742504C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742504C>G , CM000664.2:g.25742504C>G	GRCh38
NC_000002.11:g.25965373C>G , CM000664.1:g.25965373C>G	GRCh37
NC_000002.10:g.25818877C>G	NCBI36
NG_052995.1:g.141013G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3830G>C	ENSP00000337250.5:p.Arg1277Thr
ENST00000435504.9:c.3833G>C MANE Select	ENSP00000391447.3:p.Arg1278Thr
ENST00000336112.8:c.3749G>C	ENSP00000337250.4:p.Arg1250Thr
ENST00000404843.5:c.2282G>C	ENSP00000383920.1:p.Arg761Thr
ENST00000435504.8:c.3833G>C	ENSP00000391447.3:p.Arg1278Thr
NM_018263.4:c.3833G>C	NP_060733.4:p.Arg1278Thr
XM_006712039.2:c.3467G>C	XP_006712102.1:p.Arg1156Thr
XM_006712040.1:c.3053G>C	XP_006712103.1:p.Arg1018Thr
XM_011532950.1:c.3830G>C	XP_011531252.1:p.Arg1277Thr
XM_011532951.1:c.3659G>C	XP_011531253.1:p.Arg1220Thr
NM_018263.5:c.3833G>C	NP_060733.4:p.Arg1278Thr
XM_006712039.3:c.3467G>C	XP_006712102.1:p.Arg1156Thr
XM_006712040.2:c.3053G>C	XP_006712103.1:p.Arg1018Thr
XM_011532950.3:c.3830G>C	XP_011531252.1:p.Arg1277Thr
XM_011532951.2:c.3659G>C	XP_011531253.1:p.Arg1220Thr
XM_017004430.1:c.3053G>C	XP_016859919.1:p.Arg1018Thr
XM_024452974.1:c.4013G>C	XP_024308742.1:p.Arg1338Thr
NM_001369346.1:c.3659G>C	NP_001356275.1:p.Arg1220Thr
NM_001369347.1:c.3053G>C	NP_001356276.1:p.Arg1018Thr
NM_018263.6:c.3833G>C MANE Select	NP_060733.4:p.Arg1278Thr