Canonical Allele Identifier: CA346076303
Gene: ASXL2 HGNC NCBI

Linked Data

dbSNP Id: rs1254356523
gnomAD v2: 2-25965456-G-T
gnomAD v3: 2-25742587-G-T
gnomAD v4: 2-25742587-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742587G>T , CM000664.2:g.25742587G>T GRCh38
NC_000002.11:g.25965456G>T , CM000664.1:g.25965456G>T GRCh37
NC_000002.10:g.25818960G>T NCBI36
NG_052995.1:g.140930C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3747C>A ENSP00000337250.5:p.Phe1249Leu
ENST00000435504.9:c.3750C>A MANE Select ENSP00000391447.3:p.Phe1250Leu
ENST00000336112.8:c.3666C>A ENSP00000337250.4:p.Phe1222Leu
ENST00000404843.5:c.2199C>A ENSP00000383920.1:p.Phe733Leu
ENST00000435504.8:c.3750C>A ENSP00000391447.3:p.Phe1250Leu
NM_018263.4:c.3750C>A NP_060733.4:p.Phe1250Leu
XM_006712039.2:c.3384C>A XP_006712102.1:p.Phe1128Leu
XM_006712040.1:c.2970C>A XP_006712103.1:p.Phe990Leu
XM_011532950.1:c.3747C>A XP_011531252.1:p.Phe1249Leu
XM_011532951.1:c.3576C>A XP_011531253.1:p.Phe1192Leu
NM_018263.5:c.3750C>A NP_060733.4:p.Phe1250Leu
XM_006712039.3:c.3384C>A XP_006712102.1:p.Phe1128Leu
XM_006712040.2:c.2970C>A XP_006712103.1:p.Phe990Leu
XM_011532950.3:c.3747C>A XP_011531252.1:p.Phe1249Leu
XM_011532951.2:c.3576C>A XP_011531253.1:p.Phe1192Leu
XM_017004430.1:c.2970C>A XP_016859919.1:p.Phe990Leu
XM_024452974.1:c.3930C>A XP_024308742.1:p.Phe1310Leu
NM_001369346.1:c.3576C>A NP_001356275.1:p.Phe1192Leu
NM_001369347.1:c.2970C>A NP_001356276.1:p.Phe990Leu
NM_018263.6:c.3750C>A MANE Select NP_060733.4:p.Phe1250Leu