Canonical Allele Identifier: CA346074499
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1441233432
gnomAD v2: 2-25965179-A-G
gnomAD v4: 2-25742310-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742310A>G , CM000664.2:g.25742310A>G GRCh38
NC_000002.11:g.25965179A>G , CM000664.1:g.25965179A>G GRCh37
NC_000002.10:g.25818683A>G NCBI36
NG_052995.1:g.141207T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4024T>C ENSP00000337250.5:p.Ser1342Pro
ENST00000435504.9:c.4027T>C MANE Select ENSP00000391447.3:p.Ser1343Pro
ENST00000336112.8:c.3943T>C ENSP00000337250.4:p.Ser1315Pro
ENST00000404843.5:c.2476T>C ENSP00000383920.1:p.Ser826Pro
ENST00000435504.8:c.4027T>C ENSP00000391447.3:p.Ser1343Pro
NM_018263.4:c.4027T>C NP_060733.4:p.Ser1343Pro
XM_006712039.2:c.3661T>C XP_006712102.1:p.Ser1221Pro
XM_006712040.1:c.3247T>C XP_006712103.1:p.Ser1083Pro
XM_011532950.1:c.4024T>C XP_011531252.1:p.Ser1342Pro
XM_011532951.1:c.3853T>C XP_011531253.1:p.Ser1285Pro
NM_018263.5:c.4027T>C NP_060733.4:p.Ser1343Pro
XM_006712039.3:c.3661T>C XP_006712102.1:p.Ser1221Pro
XM_006712040.2:c.3247T>C XP_006712103.1:p.Ser1083Pro
XM_011532950.3:c.4024T>C XP_011531252.1:p.Ser1342Pro
XM_011532951.2:c.3853T>C XP_011531253.1:p.Ser1285Pro
XM_017004430.1:c.3247T>C XP_016859919.1:p.Ser1083Pro
XM_024452974.1:c.4207T>C XP_024308742.1:p.Ser1403Pro
NM_001369346.1:c.3853T>C NP_001356275.1:p.Ser1285Pro
NM_001369347.1:c.3247T>C NP_001356276.1:p.Ser1083Pro
NM_018263.6:c.4027T>C MANE Select NP_060733.4:p.Ser1343Pro