Canonical Allele Identifier: CA43734250

Gene: ASXL2

Linked Data

• dbSNP Id: rs914399385
• gnomAD v3: 2-25742376-T-G
• gnomAD v4: 2-25742376-T-G
• MyVariant Identifiers: chr2:g.25965245T>G (hg19) ; chr2:g.25742376T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742376T>G , CM000664.2:g.25742376T>G	GRCh38
NC_000002.11:g.25965245T>G , CM000664.1:g.25965245T>G	GRCh37
NC_000002.10:g.25818749T>G	NCBI36
NG_052995.1:g.141141A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3958A>C	ENSP00000337250.5:p.Thr1320Pro
ENST00000435504.9:c.3961A>C MANE Select	ENSP00000391447.3:p.Thr1321Pro
ENST00000336112.8:c.3877A>C	ENSP00000337250.4:p.Thr1293Pro
ENST00000404843.5:c.2410A>C	ENSP00000383920.1:p.Thr804Pro
ENST00000435504.8:c.3961A>C	ENSP00000391447.3:p.Thr1321Pro
NM_018263.4:c.3961A>C	NP_060733.4:p.Thr1321Pro
XM_006712039.2:c.3595A>C	XP_006712102.1:p.Thr1199Pro
XM_006712040.1:c.3181A>C	XP_006712103.1:p.Thr1061Pro
XM_011532950.1:c.3958A>C	XP_011531252.1:p.Thr1320Pro
XM_011532951.1:c.3787A>C	XP_011531253.1:p.Thr1263Pro
NM_018263.5:c.3961A>C	NP_060733.4:p.Thr1321Pro
XM_006712039.3:c.3595A>C	XP_006712102.1:p.Thr1199Pro
XM_006712040.2:c.3181A>C	XP_006712103.1:p.Thr1061Pro
XM_011532950.3:c.3958A>C	XP_011531252.1:p.Thr1320Pro
XM_011532951.2:c.3787A>C	XP_011531253.1:p.Thr1263Pro
XM_017004430.1:c.3181A>C	XP_016859919.1:p.Thr1061Pro
XM_024452974.1:c.4141A>C	XP_024308742.1:p.Thr1381Pro
NM_001369346.1:c.3787A>C	NP_001356275.1:p.Thr1263Pro
NM_001369347.1:c.3181A>C	NP_001356276.1:p.Thr1061Pro
NM_018263.6:c.3961A>C MANE Select	NP_060733.4:p.Thr1321Pro