Canonical Allele Identifier: CA346075208
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742411G>C , CM000664.2:g.25742411G>C GRCh38
NC_000002.11:g.25965280G>C , CM000664.1:g.25965280G>C GRCh37
NC_000002.10:g.25818784G>C NCBI36
NG_052995.1:g.141106C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.3923C>G ENSP00000337250.5:p.Pro1308Arg
ENST00000435504.9:c.3926C>G MANE Select ENSP00000391447.3:p.Pro1309Arg
ENST00000336112.8:c.3842C>G ENSP00000337250.4:p.Pro1281Arg
ENST00000404843.5:c.2375C>G ENSP00000383920.1:p.Pro792Arg
ENST00000435504.8:c.3926C>G ENSP00000391447.3:p.Pro1309Arg
NM_018263.4:c.3926C>G NP_060733.4:p.Pro1309Arg
XM_006712039.2:c.3560C>G XP_006712102.1:p.Pro1187Arg
XM_006712040.1:c.3146C>G XP_006712103.1:p.Pro1049Arg
XM_011532950.1:c.3923C>G XP_011531252.1:p.Pro1308Arg
XM_011532951.1:c.3752C>G XP_011531253.1:p.Pro1251Arg
NM_018263.5:c.3926C>G NP_060733.4:p.Pro1309Arg
XM_006712039.3:c.3560C>G XP_006712102.1:p.Pro1187Arg
XM_006712040.2:c.3146C>G XP_006712103.1:p.Pro1049Arg
XM_011532950.3:c.3923C>G XP_011531252.1:p.Pro1308Arg
XM_011532951.2:c.3752C>G XP_011531253.1:p.Pro1251Arg
XM_017004430.1:c.3146C>G XP_016859919.1:p.Pro1049Arg
XM_024452974.1:c.4106C>G XP_024308742.1:p.Pro1369Arg
NM_001369346.1:c.3752C>G NP_001356275.1:p.Pro1251Arg
NM_001369347.1:c.3146C>G NP_001356276.1:p.Pro1049Arg
NM_018263.6:c.3926C>G MANE Select NP_060733.4:p.Pro1309Arg