Canonical Allele Identifier: CA346074752
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742345A>C , CM000664.2:g.25742345A>C GRCh38
NC_000002.11:g.25965214A>C , CM000664.1:g.25965214A>C GRCh37
NC_000002.10:g.25818718A>C NCBI36
NG_052995.1:g.141172T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3989T>G ENSP00000337250.5:p.Ile1330Ser
ENST00000435504.9:c.3992T>G MANE Select ENSP00000391447.3:p.Ile1331Ser
ENST00000336112.8:c.3908T>G ENSP00000337250.4:p.Ile1303Ser
ENST00000404843.5:c.2441T>G ENSP00000383920.1:p.Ile814Ser
ENST00000435504.8:c.3992T>G ENSP00000391447.3:p.Ile1331Ser
NM_018263.4:c.3992T>G NP_060733.4:p.Ile1331Ser
XM_006712039.2:c.3626T>G XP_006712102.1:p.Ile1209Ser
XM_006712040.1:c.3212T>G XP_006712103.1:p.Ile1071Ser
XM_011532950.1:c.3989T>G XP_011531252.1:p.Ile1330Ser
XM_011532951.1:c.3818T>G XP_011531253.1:p.Ile1273Ser
NM_018263.5:c.3992T>G NP_060733.4:p.Ile1331Ser
XM_006712039.3:c.3626T>G XP_006712102.1:p.Ile1209Ser
XM_006712040.2:c.3212T>G XP_006712103.1:p.Ile1071Ser
XM_011532950.3:c.3989T>G XP_011531252.1:p.Ile1330Ser
XM_011532951.2:c.3818T>G XP_011531253.1:p.Ile1273Ser
XM_017004430.1:c.3212T>G XP_016859919.1:p.Ile1071Ser
XM_024452974.1:c.4172T>G XP_024308742.1:p.Ile1391Ser
NM_001369346.1:c.3818T>G NP_001356275.1:p.Ile1273Ser
NM_001369347.1:c.3212T>G NP_001356276.1:p.Ile1071Ser
NM_018263.6:c.3992T>G MANE Select NP_060733.4:p.Ile1331Ser