Canonical Allele Identifier: CA1557388

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 3234480
• ClinVar RCV Id: RCV004546333
• dbSNP Id: rs750253621
• ExAC: 2:25965244 G / T
• gnomAD v2: 2-25965244-G-T
• gnomAD v4: 2-25742375-G-T
• MyVariant Identifiers: chr2:g.25965244G>T (hg19) ; chr2:g.25742375G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742375G>T , CM000664.2:g.25742375G>T	GRCh38
NC_000002.11:g.25965244G>T , CM000664.1:g.25965244G>T	GRCh37
NC_000002.10:g.25818748G>T	NCBI36
NG_052995.1:g.141142C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3959C>A	ENSP00000337250.5:p.Thr1320Asn
ENST00000435504.9:c.3962C>A MANE Select	ENSP00000391447.3:p.Thr1321Asn
ENST00000336112.8:c.3878C>A	ENSP00000337250.4:p.Thr1293Asn
ENST00000404843.5:c.2411C>A	ENSP00000383920.1:p.Thr804Asn
ENST00000435504.8:c.3962C>A	ENSP00000391447.3:p.Thr1321Asn
NM_018263.4:c.3962C>A	NP_060733.4:p.Thr1321Asn
XM_006712039.2:c.3596C>A	XP_006712102.1:p.Thr1199Asn
XM_006712040.1:c.3182C>A	XP_006712103.1:p.Thr1061Asn
XM_011532950.1:c.3959C>A	XP_011531252.1:p.Thr1320Asn
XM_011532951.1:c.3788C>A	XP_011531253.1:p.Thr1263Asn
NM_018263.5:c.3962C>A	NP_060733.4:p.Thr1321Asn
XM_006712039.3:c.3596C>A	XP_006712102.1:p.Thr1199Asn
XM_006712040.2:c.3182C>A	XP_006712103.1:p.Thr1061Asn
XM_011532950.3:c.3959C>A	XP_011531252.1:p.Thr1320Asn
XM_011532951.2:c.3788C>A	XP_011531253.1:p.Thr1263Asn
XM_017004430.1:c.3182C>A	XP_016859919.1:p.Thr1061Asn
XM_024452974.1:c.4142C>A	XP_024308742.1:p.Thr1381Asn
NM_001369346.1:c.3788C>A	NP_001356275.1:p.Thr1263Asn
NM_001369347.1:c.3182C>A	NP_001356276.1:p.Thr1061Asn
NM_018263.6:c.3962C>A MANE Select	NP_060733.4:p.Thr1321Asn