Canonical Allele Identifier: CA425181267

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 726629
• ClinVar RCV Id: RCV000900874
• dbSNP Id: rs1574388649
• MyVariant Identifiers: chr2:g.25964949A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742080A>G , CM000664.2:g.25742080A>G	GRCh38
NC_000002.11:g.25964949A>G , CM000664.1:g.25964949A>G	GRCh37
NC_000002.10:g.25818453A>G	NCBI36
NG_052995.1:g.141437T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4254T>C	ENSP00000337250.5:p.Asp1418=
ENST00000435504.9:c.4257T>C MANE Select	ENSP00000391447.3:p.Asp1419=
ENST00000336112.8:c.4173T>C	ENSP00000337250.4:p.Asp1391=
ENST00000404843.5:c.2706T>C	ENSP00000383920.1:p.Asp902=
ENST00000435504.8:c.4257T>C	ENSP00000391447.3:p.Asp1419=
NM_018263.4:c.4257T>C	NP_060733.4:p.Asp1419=
XM_006712039.2:c.3891T>C	XP_006712102.1:p.Asp1297=
XM_006712040.1:c.3477T>C	XP_006712103.1:p.Asp1159=
XM_011532950.1:c.4254T>C	XP_011531252.1:p.Asp1418=
XM_011532951.1:c.4083T>C	XP_011531253.1:p.Asp1361=
NM_018263.5:c.4257T>C	NP_060733.4:p.Asp1419=
XM_006712039.3:c.3891T>C	XP_006712102.1:p.Asp1297=
XM_006712040.2:c.3477T>C	XP_006712103.1:p.Asp1159=
XM_011532950.3:c.4254T>C	XP_011531252.1:p.Asp1418=
XM_011532951.2:c.4083T>C	XP_011531253.1:p.Asp1361=
XM_017004430.1:c.3477T>C	XP_016859919.1:p.Asp1159=
XM_024452974.1:c.4437T>C	XP_024308742.1:p.Asp1479=
NM_001369346.1:c.4083T>C	NP_001356275.1:p.Asp1361=
NM_001369347.1:c.3477T>C	NP_001356276.1:p.Asp1159=
NM_018263.6:c.4257T>C MANE Select	NP_060733.4:p.Asp1419=