Canonical Allele Identifier: CA1557380
Gene: ASXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1464930
dbSNP Id: rs191895729
gnomAD v2: 2-25965206-A-C
gnomAD v3: 2-25742337-A-C
gnomAD v4: 2-25742337-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742337A>C , CM000664.2:g.25742337A>C GRCh38
NC_000002.11:g.25965206A>C , CM000664.1:g.25965206A>C GRCh37
NC_000002.10:g.25818710A>C NCBI36
NG_052995.1:g.141180T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3997T>G ENSP00000337250.5:p.Ser1333Ala
ENST00000435504.9:c.4000T>G MANE Select ENSP00000391447.3:p.Ser1334Ala
ENST00000336112.8:c.3916T>G ENSP00000337250.4:p.Ser1306Ala
ENST00000404843.5:c.2449T>G ENSP00000383920.1:p.Ser817Ala
ENST00000435504.8:c.4000T>G ENSP00000391447.3:p.Ser1334Ala
NM_018263.4:c.4000T>G NP_060733.4:p.Ser1334Ala
XM_006712039.2:c.3634T>G XP_006712102.1:p.Ser1212Ala
XM_006712040.1:c.3220T>G XP_006712103.1:p.Ser1074Ala
XM_011532950.1:c.3997T>G XP_011531252.1:p.Ser1333Ala
XM_011532951.1:c.3826T>G XP_011531253.1:p.Ser1276Ala
NM_018263.5:c.4000T>G NP_060733.4:p.Ser1334Ala
XM_006712039.3:c.3634T>G XP_006712102.1:p.Ser1212Ala
XM_006712040.2:c.3220T>G XP_006712103.1:p.Ser1074Ala
XM_011532950.3:c.3997T>G XP_011531252.1:p.Ser1333Ala
XM_011532951.2:c.3826T>G XP_011531253.1:p.Ser1276Ala
XM_017004430.1:c.3220T>G XP_016859919.1:p.Ser1074Ala
XM_024452974.1:c.4180T>G XP_024308742.1:p.Ser1394Ala
NM_001369346.1:c.3826T>G NP_001356275.1:p.Ser1276Ala
NM_001369347.1:c.3220T>G NP_001356276.1:p.Ser1074Ala
NM_018263.6:c.4000T>G MANE Select NP_060733.4:p.Ser1334Ala