Canonical Allele Identifier: CA346073769
Gene: ASXL2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.25742178A>G , CM000664.2:g.25742178A>G GRCh38
NC_000002.11:g.25965047A>G , CM000664.1:g.25965047A>G GRCh37
NC_000002.10:g.25818551A>G NCBI36
NG_052995.1:g.141339T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000336112.9:c.4156T>C ENSP00000337250.5:p.Phe1386Leu
ENST00000435504.9:c.4159T>C MANE Select ENSP00000391447.3:p.Phe1387Leu
ENST00000336112.8:c.4075T>C ENSP00000337250.4:p.Phe1359Leu
ENST00000404843.5:c.2608T>C ENSP00000383920.1:p.Phe870Leu
ENST00000435504.8:c.4159T>C ENSP00000391447.3:p.Phe1387Leu
NM_018263.4:c.4159T>C NP_060733.4:p.Phe1387Leu
XM_006712039.2:c.3793T>C XP_006712102.1:p.Phe1265Leu
XM_006712040.1:c.3379T>C XP_006712103.1:p.Phe1127Leu
XM_011532950.1:c.4156T>C XP_011531252.1:p.Phe1386Leu
XM_011532951.1:c.3985T>C XP_011531253.1:p.Phe1329Leu
NM_018263.5:c.4159T>C NP_060733.4:p.Phe1387Leu
XM_006712039.3:c.3793T>C XP_006712102.1:p.Phe1265Leu
XM_006712040.2:c.3379T>C XP_006712103.1:p.Phe1127Leu
XM_011532950.3:c.4156T>C XP_011531252.1:p.Phe1386Leu
XM_011532951.2:c.3985T>C XP_011531253.1:p.Phe1329Leu
XM_017004430.1:c.3379T>C XP_016859919.1:p.Phe1127Leu
XM_024452974.1:c.4339T>C XP_024308742.1:p.Phe1447Leu
NM_001369346.1:c.3985T>C NP_001356275.1:p.Phe1329Leu
NM_001369347.1:c.3379T>C NP_001356276.1:p.Phe1127Leu
NM_018263.6:c.4159T>C MANE Select NP_060733.4:p.Phe1387Leu