Canonical Allele Identifier: CA425181284
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs2087838504
gnomAD v3: 2-25742101-G-A
gnomAD v4: 2-25742101-G-A
MyVariant Identifiers: chr2:g.25964970G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742101G>A , CM000664.2:g.25742101G>A GRCh38
NC_000002.11:g.25964970G>A , CM000664.1:g.25964970G>A GRCh37
NC_000002.10:g.25818474G>A NCBI36
NG_052995.1:g.141416C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4233C>T ENSP00000337250.5:p.Gly1411=
ENST00000435504.9:c.4236C>T MANE Select ENSP00000391447.3:p.Gly1412=
ENST00000336112.8:c.4152C>T ENSP00000337250.4:p.Gly1384=
ENST00000404843.5:c.2685C>T ENSP00000383920.1:p.Gly895=
ENST00000435504.8:c.4236C>T ENSP00000391447.3:p.Gly1412=
NM_018263.4:c.4236C>T NP_060733.4:p.Gly1412=
XM_006712039.2:c.3870C>T XP_006712102.1:p.Gly1290=
XM_006712040.1:c.3456C>T XP_006712103.1:p.Gly1152=
XM_011532950.1:c.4233C>T XP_011531252.1:p.Gly1411=
XM_011532951.1:c.4062C>T XP_011531253.1:p.Gly1354=
NM_018263.5:c.4236C>T NP_060733.4:p.Gly1412=
XM_006712039.3:c.3870C>T XP_006712102.1:p.Gly1290=
XM_006712040.2:c.3456C>T XP_006712103.1:p.Gly1152=
XM_011532950.3:c.4233C>T XP_011531252.1:p.Gly1411=
XM_011532951.2:c.4062C>T XP_011531253.1:p.Gly1354=
XM_017004430.1:c.3456C>T XP_016859919.1:p.Gly1152=
XM_024452974.1:c.4416C>T XP_024308742.1:p.Gly1472=
NM_001369346.1:c.4062C>T NP_001356275.1:p.Gly1354=
NM_001369347.1:c.3456C>T NP_001356276.1:p.Gly1152=
NM_018263.6:c.4236C>T MANE Select NP_060733.4:p.Gly1412=