Canonical Allele Identifier: CA346074400
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1224625868

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742294C>T , CM000664.2:g.25742294C>T GRCh38
NC_000002.11:g.25965163C>T , CM000664.1:g.25965163C>T GRCh37
NC_000002.10:g.25818667C>T NCBI36
NG_052995.1:g.141223G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4040G>A ENSP00000337250.5:p.Ser1347Asn
ENST00000435504.9:c.4043G>A MANE Select ENSP00000391447.3:p.Ser1348Asn
ENST00000336112.8:c.3959G>A ENSP00000337250.4:p.Ser1320Asn
ENST00000404843.5:c.2492G>A ENSP00000383920.1:p.Ser831Asn
ENST00000435504.8:c.4043G>A ENSP00000391447.3:p.Ser1348Asn
NM_018263.4:c.4043G>A NP_060733.4:p.Ser1348Asn
XM_006712039.2:c.3677G>A XP_006712102.1:p.Ser1226Asn
XM_006712040.1:c.3263G>A XP_006712103.1:p.Ser1088Asn
XM_011532950.1:c.4040G>A XP_011531252.1:p.Ser1347Asn
XM_011532951.1:c.3869G>A XP_011531253.1:p.Ser1290Asn
NM_018263.5:c.4043G>A NP_060733.4:p.Ser1348Asn
XM_006712039.3:c.3677G>A XP_006712102.1:p.Ser1226Asn
XM_006712040.2:c.3263G>A XP_006712103.1:p.Ser1088Asn
XM_011532950.3:c.4040G>A XP_011531252.1:p.Ser1347Asn
XM_011532951.2:c.3869G>A XP_011531253.1:p.Ser1290Asn
XM_017004430.1:c.3263G>A XP_016859919.1:p.Ser1088Asn
XM_024452974.1:c.4223G>A XP_024308742.1:p.Ser1408Asn
NM_001369346.1:c.3869G>A NP_001356275.1:p.Ser1290Asn
NM_001369347.1:c.3263G>A NP_001356276.1:p.Ser1088Asn
NM_018263.6:c.4043G>A MANE Select NP_060733.4:p.Ser1348Asn