Canonical Allele Identifier: CA1557389

Gene: ASXL2

Linked Data

• dbSNP Id: rs150720719
• ExAC: 2:25965248 G / T
• gnomAD v2: 2-25965248-G-T
• gnomAD v3: 2-25742379-G-T
• gnomAD v4: 2-25742379-G-T
• MyVariant Identifiers: chr2:g.25965248G>T (hg19) ; chr2:g.25742379G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742379G>T , CM000664.2:g.25742379G>T	GRCh38
NC_000002.11:g.25965248G>T , CM000664.1:g.25965248G>T	GRCh37
NC_000002.10:g.25818752G>T	NCBI36
NG_052995.1:g.141138C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3955C>A	ENSP00000337250.5:p.Pro1319Thr
ENST00000435504.9:c.3958C>A MANE Select	ENSP00000391447.3:p.Pro1320Thr
ENST00000336112.8:c.3874C>A	ENSP00000337250.4:p.Pro1292Thr
ENST00000404843.5:c.2407C>A	ENSP00000383920.1:p.Pro803Thr
ENST00000435504.8:c.3958C>A	ENSP00000391447.3:p.Pro1320Thr
NM_018263.4:c.3958C>A	NP_060733.4:p.Pro1320Thr
XM_006712039.2:c.3592C>A	XP_006712102.1:p.Pro1198Thr
XM_006712040.1:c.3178C>A	XP_006712103.1:p.Pro1060Thr
XM_011532950.1:c.3955C>A	XP_011531252.1:p.Pro1319Thr
XM_011532951.1:c.3784C>A	XP_011531253.1:p.Pro1262Thr
NM_018263.5:c.3958C>A	NP_060733.4:p.Pro1320Thr
XM_006712039.3:c.3592C>A	XP_006712102.1:p.Pro1198Thr
XM_006712040.2:c.3178C>A	XP_006712103.1:p.Pro1060Thr
XM_011532950.3:c.3955C>A	XP_011531252.1:p.Pro1319Thr
XM_011532951.2:c.3784C>A	XP_011531253.1:p.Pro1262Thr
XM_017004430.1:c.3178C>A	XP_016859919.1:p.Pro1060Thr
XM_024452974.1:c.4138C>A	XP_024308742.1:p.Pro1380Thr
NM_001369346.1:c.3784C>A	NP_001356275.1:p.Pro1262Thr
NM_001369347.1:c.3178C>A	NP_001356276.1:p.Pro1060Thr
NM_018263.6:c.3958C>A MANE Select	NP_060733.4:p.Pro1320Thr