Canonical Allele Identifier: CA346073727
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742159A>T , CM000664.2:g.25742159A>T GRCh38
NC_000002.11:g.25965028A>T , CM000664.1:g.25965028A>T GRCh37
NC_000002.10:g.25818532A>T NCBI36
NG_052995.1:g.141358T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4175T>A ENSP00000337250.5:p.Ile1392Lys
ENST00000435504.9:c.4178T>A MANE Select ENSP00000391447.3:p.Ile1393Lys
ENST00000336112.8:c.4094T>A ENSP00000337250.4:p.Ile1365Lys
ENST00000404843.5:c.2627T>A ENSP00000383920.1:p.Ile876Lys
ENST00000435504.8:c.4178T>A ENSP00000391447.3:p.Ile1393Lys
NM_018263.4:c.4178T>A NP_060733.4:p.Ile1393Lys
XM_006712039.2:c.3812T>A XP_006712102.1:p.Ile1271Lys
XM_006712040.1:c.3398T>A XP_006712103.1:p.Ile1133Lys
XM_011532950.1:c.4175T>A XP_011531252.1:p.Ile1392Lys
XM_011532951.1:c.4004T>A XP_011531253.1:p.Ile1335Lys
NM_018263.5:c.4178T>A NP_060733.4:p.Ile1393Lys
XM_006712039.3:c.3812T>A XP_006712102.1:p.Ile1271Lys
XM_006712040.2:c.3398T>A XP_006712103.1:p.Ile1133Lys
XM_011532950.3:c.4175T>A XP_011531252.1:p.Ile1392Lys
XM_011532951.2:c.4004T>A XP_011531253.1:p.Ile1335Lys
XM_017004430.1:c.3398T>A XP_016859919.1:p.Ile1133Lys
XM_024452974.1:c.4358T>A XP_024308742.1:p.Ile1453Lys
NM_001369346.1:c.4004T>A NP_001356275.1:p.Ile1335Lys
NM_001369347.1:c.3398T>A NP_001356276.1:p.Ile1133Lys
NM_018263.6:c.4178T>A MANE Select NP_060733.4:p.Ile1393Lys