Canonical Allele Identifier: CA1557338

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 1992033
• ClinVar RCV Id: RCV002791045
• dbSNP Id: rs374945043
• ExAC: 2:25965012 C / T
• gnomAD v2: 2-25965012-C-T
• gnomAD v3: 2-25742143-C-T
• gnomAD v4: 2-25742143-C-T
• MyVariant Identifiers: chr2:g.25965012C>T (hg19) ; chr2:g.25742143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742143C>T , CM000664.2:g.25742143C>T	GRCh38
NC_000002.11:g.25965012C>T , CM000664.1:g.25965012C>T	GRCh37
NC_000002.10:g.25818516C>T	NCBI36
NG_052995.1:g.141374G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4191G>A	ENSP00000337250.5:p.Ser1397=
ENST00000435504.9:c.4194G>A MANE Select	ENSP00000391447.3:p.Ser1398=
ENST00000336112.8:c.4110G>A	ENSP00000337250.4:p.Ser1370=
ENST00000404843.5:c.2643G>A	ENSP00000383920.1:p.Ser881=
ENST00000435504.8:c.4194G>A	ENSP00000391447.3:p.Ser1398=
NM_018263.4:c.4194G>A	NP_060733.4:p.Ser1398=
XM_006712039.2:c.3828G>A	XP_006712102.1:p.Ser1276=
XM_006712040.1:c.3414G>A	XP_006712103.1:p.Ser1138=
XM_011532950.1:c.4191G>A	XP_011531252.1:p.Ser1397=
XM_011532951.1:c.4020G>A	XP_011531253.1:p.Ser1340=
NM_018263.5:c.4194G>A	NP_060733.4:p.Ser1398=
XM_006712039.3:c.3828G>A	XP_006712102.1:p.Ser1276=
XM_006712040.2:c.3414G>A	XP_006712103.1:p.Ser1138=
XM_011532950.3:c.4191G>A	XP_011531252.1:p.Ser1397=
XM_011532951.2:c.4020G>A	XP_011531253.1:p.Ser1340=
XM_017004430.1:c.3414G>A	XP_016859919.1:p.Ser1138=
XM_024452974.1:c.4374G>A	XP_024308742.1:p.Ser1458=
NM_001369346.1:c.4020G>A	NP_001356275.1:p.Ser1340=
NM_001369347.1:c.3414G>A	NP_001356276.1:p.Ser1138=
NM_018263.6:c.4194G>A MANE Select	NP_060733.4:p.Ser1398=