Canonical Allele Identifier: CA346074551

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742318-T-G
• MyVariant Identifiers: chr2:g.25965187T>G (hg19) ; chr2:g.25742318T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742318T>G , CM000664.2:g.25742318T>G	GRCh38
NC_000002.11:g.25965187T>G , CM000664.1:g.25965187T>G	GRCh37
NC_000002.10:g.25818691T>G	NCBI36
NG_052995.1:g.141199A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4016A>C	ENSP00000337250.5:p.Asp1339Ala
ENST00000435504.9:c.4019A>C MANE Select	ENSP00000391447.3:p.Asp1340Ala
ENST00000336112.8:c.3935A>C	ENSP00000337250.4:p.Asp1312Ala
ENST00000404843.5:c.2468A>C	ENSP00000383920.1:p.Asp823Ala
ENST00000435504.8:c.4019A>C	ENSP00000391447.3:p.Asp1340Ala
NM_018263.4:c.4019A>C	NP_060733.4:p.Asp1340Ala
XM_006712039.2:c.3653A>C	XP_006712102.1:p.Asp1218Ala
XM_006712040.1:c.3239A>C	XP_006712103.1:p.Asp1080Ala
XM_011532950.1:c.4016A>C	XP_011531252.1:p.Asp1339Ala
XM_011532951.1:c.3845A>C	XP_011531253.1:p.Asp1282Ala
NM_018263.5:c.4019A>C	NP_060733.4:p.Asp1340Ala
XM_006712039.3:c.3653A>C	XP_006712102.1:p.Asp1218Ala
XM_006712040.2:c.3239A>C	XP_006712103.1:p.Asp1080Ala
XM_011532950.3:c.4016A>C	XP_011531252.1:p.Asp1339Ala
XM_011532951.2:c.3845A>C	XP_011531253.1:p.Asp1282Ala
XM_017004430.1:c.3239A>C	XP_016859919.1:p.Asp1080Ala
XM_024452974.1:c.4199A>C	XP_024308742.1:p.Asp1400Ala
NM_001369346.1:c.3845A>C	NP_001356275.1:p.Asp1282Ala
NM_001369347.1:c.3239A>C	NP_001356276.1:p.Asp1080Ala
NM_018263.6:c.4019A>C MANE Select	NP_060733.4:p.Asp1340Ala