Canonical Allele Identifier: CA346073924
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742223C>A , CM000664.2:g.25742223C>A GRCh38
NC_000002.11:g.25965092C>A , CM000664.1:g.25965092C>A GRCh37
NC_000002.10:g.25818596C>A NCBI36
NG_052995.1:g.141294G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4111G>T ENSP00000337250.5:p.Ala1371Ser
ENST00000435504.9:c.4114G>T MANE Select ENSP00000391447.3:p.Ala1372Ser
ENST00000336112.8:c.4030G>T ENSP00000337250.4:p.Ala1344Ser
ENST00000404843.5:c.2563G>T ENSP00000383920.1:p.Ala855Ser
ENST00000435504.8:c.4114G>T ENSP00000391447.3:p.Ala1372Ser
NM_018263.4:c.4114G>T NP_060733.4:p.Ala1372Ser
XM_006712039.2:c.3748G>T XP_006712102.1:p.Ala1250Ser
XM_006712040.1:c.3334G>T XP_006712103.1:p.Ala1112Ser
XM_011532950.1:c.4111G>T XP_011531252.1:p.Ala1371Ser
XM_011532951.1:c.3940G>T XP_011531253.1:p.Ala1314Ser
NM_018263.5:c.4114G>T NP_060733.4:p.Ala1372Ser
XM_006712039.3:c.3748G>T XP_006712102.1:p.Ala1250Ser
XM_006712040.2:c.3334G>T XP_006712103.1:p.Ala1112Ser
XM_011532950.3:c.4111G>T XP_011531252.1:p.Ala1371Ser
XM_011532951.2:c.3940G>T XP_011531253.1:p.Ala1314Ser
XM_017004430.1:c.3334G>T XP_016859919.1:p.Ala1112Ser
XM_024452974.1:c.4294G>T XP_024308742.1:p.Ala1432Ser
NM_001369346.1:c.3940G>T NP_001356275.1:p.Ala1314Ser
NM_001369347.1:c.3334G>T NP_001356276.1:p.Ala1112Ser
NM_018263.6:c.4114G>T MANE Select NP_060733.4:p.Ala1372Ser