Canonical Allele Identifier: CA346073866
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742211T>G , CM000664.2:g.25742211T>G GRCh38
NC_000002.11:g.25965080T>G , CM000664.1:g.25965080T>G GRCh37
NC_000002.10:g.25818584T>G NCBI36
NG_052995.1:g.141306A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4123A>C ENSP00000337250.5:p.Ser1375Arg
ENST00000435504.9:c.4126A>C MANE Select ENSP00000391447.3:p.Ser1376Arg
ENST00000336112.8:c.4042A>C ENSP00000337250.4:p.Ser1348Arg
ENST00000404843.5:c.2575A>C ENSP00000383920.1:p.Ser859Arg
ENST00000435504.8:c.4126A>C ENSP00000391447.3:p.Ser1376Arg
NM_018263.4:c.4126A>C NP_060733.4:p.Ser1376Arg
XM_006712039.2:c.3760A>C XP_006712102.1:p.Ser1254Arg
XM_006712040.1:c.3346A>C XP_006712103.1:p.Ser1116Arg
XM_011532950.1:c.4123A>C XP_011531252.1:p.Ser1375Arg
XM_011532951.1:c.3952A>C XP_011531253.1:p.Ser1318Arg
NM_018263.5:c.4126A>C NP_060733.4:p.Ser1376Arg
XM_006712039.3:c.3760A>C XP_006712102.1:p.Ser1254Arg
XM_006712040.2:c.3346A>C XP_006712103.1:p.Ser1116Arg
XM_011532950.3:c.4123A>C XP_011531252.1:p.Ser1375Arg
XM_011532951.2:c.3952A>C XP_011531253.1:p.Ser1318Arg
XM_017004430.1:c.3346A>C XP_016859919.1:p.Ser1116Arg
XM_024452974.1:c.4306A>C XP_024308742.1:p.Ser1436Arg
NM_001369346.1:c.3952A>C NP_001356275.1:p.Ser1318Arg
NM_001369347.1:c.3346A>C NP_001356276.1:p.Ser1116Arg
NM_018263.6:c.4126A>C MANE Select NP_060733.4:p.Ser1376Arg