Canonical Allele Identifier: CA1557423
Gene: ASXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3130605
ClinVar RCV Id: RCV004423002
dbSNP Id: rs762887744
gnomAD v2: 2-25965436-T-C
gnomAD v4: 2-25742567-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742567T>C , CM000664.2:g.25742567T>C GRCh38
NC_000002.11:g.25965436T>C , CM000664.1:g.25965436T>C GRCh37
NC_000002.10:g.25818940T>C NCBI36
NG_052995.1:g.140950A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3767A>G ENSP00000337250.5:p.Asp1256Gly
ENST00000435504.9:c.3770A>G MANE Select ENSP00000391447.3:p.Asp1257Gly
ENST00000336112.8:c.3686A>G ENSP00000337250.4:p.Asp1229Gly
ENST00000404843.5:c.2219A>G ENSP00000383920.1:p.Asp740Gly
ENST00000435504.8:c.3770A>G ENSP00000391447.3:p.Asp1257Gly
NM_018263.4:c.3770A>G NP_060733.4:p.Asp1257Gly
XM_006712039.2:c.3404A>G XP_006712102.1:p.Asp1135Gly
XM_006712040.1:c.2990A>G XP_006712103.1:p.Asp997Gly
XM_011532950.1:c.3767A>G XP_011531252.1:p.Asp1256Gly
XM_011532951.1:c.3596A>G XP_011531253.1:p.Asp1199Gly
NM_018263.5:c.3770A>G NP_060733.4:p.Asp1257Gly
XM_006712039.3:c.3404A>G XP_006712102.1:p.Asp1135Gly
XM_006712040.2:c.2990A>G XP_006712103.1:p.Asp997Gly
XM_011532950.3:c.3767A>G XP_011531252.1:p.Asp1256Gly
XM_011532951.2:c.3596A>G XP_011531253.1:p.Asp1199Gly
XM_017004430.1:c.2990A>G XP_016859919.1:p.Asp997Gly
XM_024452974.1:c.3950A>G XP_024308742.1:p.Asp1317Gly
NM_001369346.1:c.3596A>G NP_001356275.1:p.Asp1199Gly
NM_001369347.1:c.2990A>G NP_001356276.1:p.Asp997Gly
NM_018263.6:c.3770A>G MANE Select NP_060733.4:p.Asp1257Gly