Canonical Allele Identifier: CA1557386
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs757158204
gnomAD v2: 2-25965233-G-A
gnomAD v4: 2-25742364-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742364G>A , CM000664.2:g.25742364G>A GRCh38
NC_000002.11:g.25965233G>A , CM000664.1:g.25965233G>A GRCh37
NC_000002.10:g.25818737G>A NCBI36
NG_052995.1:g.141153C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3970C>T ENSP00000337250.5:p.Pro1324Ser
ENST00000435504.9:c.3973C>T MANE Select ENSP00000391447.3:p.Pro1325Ser
ENST00000336112.8:c.3889C>T ENSP00000337250.4:p.Pro1297Ser
ENST00000404843.5:c.2422C>T ENSP00000383920.1:p.Pro808Ser
ENST00000435504.8:c.3973C>T ENSP00000391447.3:p.Pro1325Ser
NM_018263.4:c.3973C>T NP_060733.4:p.Pro1325Ser
XM_006712039.2:c.3607C>T XP_006712102.1:p.Pro1203Ser
XM_006712040.1:c.3193C>T XP_006712103.1:p.Pro1065Ser
XM_011532950.1:c.3970C>T XP_011531252.1:p.Pro1324Ser
XM_011532951.1:c.3799C>T XP_011531253.1:p.Pro1267Ser
NM_018263.5:c.3973C>T NP_060733.4:p.Pro1325Ser
XM_006712039.3:c.3607C>T XP_006712102.1:p.Pro1203Ser
XM_006712040.2:c.3193C>T XP_006712103.1:p.Pro1065Ser
XM_011532950.3:c.3970C>T XP_011531252.1:p.Pro1324Ser
XM_011532951.2:c.3799C>T XP_011531253.1:p.Pro1267Ser
XM_017004430.1:c.3193C>T XP_016859919.1:p.Pro1065Ser
XM_024452974.1:c.4153C>T XP_024308742.1:p.Pro1385Ser
NM_001369346.1:c.3799C>T NP_001356275.1:p.Pro1267Ser
NM_001369347.1:c.3193C>T NP_001356276.1:p.Pro1065Ser
NM_018263.6:c.3973C>T MANE Select NP_060733.4:p.Pro1325Ser