Canonical Allele Identifier: CA425181376
Gene: ASXL2 HGNC NCBI

Linked Data

gnomAD v4: 2-25742188-A-G
MyVariant Identifiers: chr2:g.25965057A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742188A>G , CM000664.2:g.25742188A>G GRCh38
NC_000002.11:g.25965057A>G , CM000664.1:g.25965057A>G GRCh37
NC_000002.10:g.25818561A>G NCBI36
NG_052995.1:g.141329T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4146T>C ENSP00000337250.5:p.Pro1382=
ENST00000435504.9:c.4149T>C MANE Select ENSP00000391447.3:p.Pro1383=
ENST00000336112.8:c.4065T>C ENSP00000337250.4:p.Pro1355=
ENST00000404843.5:c.2598T>C ENSP00000383920.1:p.Pro866=
ENST00000435504.8:c.4149T>C ENSP00000391447.3:p.Pro1383=
NM_018263.4:c.4149T>C NP_060733.4:p.Pro1383=
XM_006712039.2:c.3783T>C XP_006712102.1:p.Pro1261=
XM_006712040.1:c.3369T>C XP_006712103.1:p.Pro1123=
XM_011532950.1:c.4146T>C XP_011531252.1:p.Pro1382=
XM_011532951.1:c.3975T>C XP_011531253.1:p.Pro1325=
NM_018263.5:c.4149T>C NP_060733.4:p.Pro1383=
XM_006712039.3:c.3783T>C XP_006712102.1:p.Pro1261=
XM_006712040.2:c.3369T>C XP_006712103.1:p.Pro1123=
XM_011532950.3:c.4146T>C XP_011531252.1:p.Pro1382=
XM_011532951.2:c.3975T>C XP_011531253.1:p.Pro1325=
XM_017004430.1:c.3369T>C XP_016859919.1:p.Pro1123=
XM_024452974.1:c.4329T>C XP_024308742.1:p.Pro1443=
NM_001369346.1:c.3975T>C NP_001356275.1:p.Pro1325=
NM_001369347.1:c.3369T>C NP_001356276.1:p.Pro1123=
NM_018263.6:c.4149T>C MANE Select NP_060733.4:p.Pro1383=