Canonical Allele Identifier: CA1557320

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2906015
• ClinVar RCV Id: RCV003731951 ; RCV003966644
• dbSNP Id: rs371044436
• ExAC: 2:25964907 G / C
• gnomAD v2: 2-25964907-G-C
• gnomAD v3: 2-25742038-G-C
• gnomAD v4: 2-25742038-G-C
• MyVariant Identifiers: chr2:g.25964907G>C (hg19) ; chr2:g.25742038G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742038G>C , CM000664.2:g.25742038G>C	GRCh38
NC_000002.11:g.25964907G>C , CM000664.1:g.25964907G>C	GRCh37
NC_000002.10:g.25818411G>C	NCBI36
NG_052995.1:g.141479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4296C>G	ENSP00000337250.5:p.Val1432=
ENST00000435504.9:c.4299C>G MANE Select	ENSP00000391447.3:p.Val1433=
ENST00000336112.8:c.4215C>G	ENSP00000337250.4:p.Val1405=
ENST00000404843.5:c.2748C>G	ENSP00000383920.1:p.Val916=
ENST00000435504.8:c.4299C>G	ENSP00000391447.3:p.Val1433=
NM_018263.4:c.4299C>G	NP_060733.4:p.Val1433=
XM_006712039.2:c.3933C>G	XP_006712102.1:p.Val1311=
XM_006712040.1:c.3519C>G	XP_006712103.1:p.Val1173=
XM_011532950.1:c.4296C>G	XP_011531252.1:p.Val1432=
XM_011532951.1:c.4125C>G	XP_011531253.1:p.Val1375=
NM_018263.5:c.4299C>G	NP_060733.4:p.Val1433=
XM_006712039.3:c.3933C>G	XP_006712102.1:p.Val1311=
XM_006712040.2:c.3519C>G	XP_006712103.1:p.Val1173=
XM_011532950.3:c.4296C>G	XP_011531252.1:p.Val1432=
XM_011532951.2:c.4125C>G	XP_011531253.1:p.Val1375=
XM_017004430.1:c.3519C>G	XP_016859919.1:p.Val1173=
XM_024452974.1:c.4479C>G	XP_024308742.1:p.Val1493=
NM_001369346.1:c.4125C>G	NP_001356275.1:p.Val1375=
NM_001369347.1:c.3519C>G	NP_001356276.1:p.Val1173=
NM_018263.6:c.4299C>G MANE Select	NP_060733.4:p.Val1433=