Canonical Allele Identifier: CA346076089

Gene: ASXL2

Linked Data

• dbSNP Id: rs1209686137
• gnomAD v2: 2-25965419-T-C
• gnomAD v4: 2-25742550-T-C
• MyVariant Identifiers: chr2:g.25965419T>C (hg19) ; chr2:g.25742550T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742550T>C , CM000664.2:g.25742550T>C	GRCh38
NC_000002.11:g.25965419T>C , CM000664.1:g.25965419T>C	GRCh37
NC_000002.10:g.25818923T>C	NCBI36
NG_052995.1:g.140967A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3784A>G	ENSP00000337250.5:p.Arg1262Gly
ENST00000435504.9:c.3787A>G MANE Select	ENSP00000391447.3:p.Arg1263Gly
ENST00000336112.8:c.3703A>G	ENSP00000337250.4:p.Arg1235Gly
ENST00000404843.5:c.2236A>G	ENSP00000383920.1:p.Arg746Gly
ENST00000435504.8:c.3787A>G	ENSP00000391447.3:p.Arg1263Gly
NM_018263.4:c.3787A>G	NP_060733.4:p.Arg1263Gly
XM_006712039.2:c.3421A>G	XP_006712102.1:p.Arg1141Gly
XM_006712040.1:c.3007A>G	XP_006712103.1:p.Arg1003Gly
XM_011532950.1:c.3784A>G	XP_011531252.1:p.Arg1262Gly
XM_011532951.1:c.3613A>G	XP_011531253.1:p.Arg1205Gly
NM_018263.5:c.3787A>G	NP_060733.4:p.Arg1263Gly
XM_006712039.3:c.3421A>G	XP_006712102.1:p.Arg1141Gly
XM_006712040.2:c.3007A>G	XP_006712103.1:p.Arg1003Gly
XM_011532950.3:c.3784A>G	XP_011531252.1:p.Arg1262Gly
XM_011532951.2:c.3613A>G	XP_011531253.1:p.Arg1205Gly
XM_017004430.1:c.3007A>G	XP_016859919.1:p.Arg1003Gly
XM_024452974.1:c.3967A>G	XP_024308742.1:p.Arg1323Gly
NM_001369346.1:c.3613A>G	NP_001356275.1:p.Arg1205Gly
NM_001369347.1:c.3007A>G	NP_001356276.1:p.Arg1003Gly
NM_018263.6:c.3787A>G MANE Select	NP_060733.4:p.Arg1263Gly