Canonical Allele Identifier: CA346076231

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742573-G-A
• MyVariant Identifiers: chr2:g.25965442G>A (hg19) ; chr2:g.25742573G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742573G>A , CM000664.2:g.25742573G>A	GRCh38
NC_000002.11:g.25965442G>A , CM000664.1:g.25965442G>A	GRCh37
NC_000002.10:g.25818946G>A	NCBI36
NG_052995.1:g.140944C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3761C>T	ENSP00000337250.5:p.Thr1254Ile
ENST00000435504.9:c.3764C>T MANE Select	ENSP00000391447.3:p.Thr1255Ile
ENST00000336112.8:c.3680C>T	ENSP00000337250.4:p.Thr1227Ile
ENST00000404843.5:c.2213C>T	ENSP00000383920.1:p.Thr738Ile
ENST00000435504.8:c.3764C>T	ENSP00000391447.3:p.Thr1255Ile
NM_018263.4:c.3764C>T	NP_060733.4:p.Thr1255Ile
XM_006712039.2:c.3398C>T	XP_006712102.1:p.Thr1133Ile
XM_006712040.1:c.2984C>T	XP_006712103.1:p.Thr995Ile
XM_011532950.1:c.3761C>T	XP_011531252.1:p.Thr1254Ile
XM_011532951.1:c.3590C>T	XP_011531253.1:p.Thr1197Ile
NM_018263.5:c.3764C>T	NP_060733.4:p.Thr1255Ile
XM_006712039.3:c.3398C>T	XP_006712102.1:p.Thr1133Ile
XM_006712040.2:c.2984C>T	XP_006712103.1:p.Thr995Ile
XM_011532950.3:c.3761C>T	XP_011531252.1:p.Thr1254Ile
XM_011532951.2:c.3590C>T	XP_011531253.1:p.Thr1197Ile
XM_017004430.1:c.2984C>T	XP_016859919.1:p.Thr995Ile
XM_024452974.1:c.3944C>T	XP_024308742.1:p.Thr1315Ile
NM_001369346.1:c.3590C>T	NP_001356275.1:p.Thr1197Ile
NM_001369347.1:c.2984C>T	NP_001356276.1:p.Thr995Ile
NM_018263.6:c.3764C>T MANE Select	NP_060733.4:p.Thr1255Ile