Canonical Allele Identifier: CA1557325

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 1916008
• ClinVar RCV Id: RCV002613127
• dbSNP Id: rs758086432
• ExAC: 2:25964940 G / A
• gnomAD v2: 2-25964940-G-A
• gnomAD v3: 2-25742071-G-A
• gnomAD v4: 2-25742071-G-A
• COSMIC: COSM4972736 ; COSM4972737
• MyVariant Identifiers: chr2:g.25964940G>A (hg19) ; chr2:g.25742071G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742071G>A , CM000664.2:g.25742071G>A	GRCh38
NC_000002.11:g.25964940G>A , CM000664.1:g.25964940G>A	GRCh37
NC_000002.10:g.25818444G>A	NCBI36
NG_052995.1:g.141446C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4263C>T	ENSP00000337250.5:p.Ile1421=
ENST00000435504.9:c.4266C>T MANE Select	ENSP00000391447.3:p.Ile1422=
ENST00000336112.8:c.4182C>T	ENSP00000337250.4:p.Ile1394=
ENST00000404843.5:c.2715C>T	ENSP00000383920.1:p.Ile905=
ENST00000435504.8:c.4266C>T	ENSP00000391447.3:p.Ile1422=
NM_018263.4:c.4266C>T	NP_060733.4:p.Ile1422=
XM_006712039.2:c.3900C>T	XP_006712102.1:p.Ile1300=
XM_006712040.1:c.3486C>T	XP_006712103.1:p.Ile1162=
XM_011532950.1:c.4263C>T	XP_011531252.1:p.Ile1421=
XM_011532951.1:c.4092C>T	XP_011531253.1:p.Ile1364=
NM_018263.5:c.4266C>T	NP_060733.4:p.Ile1422=
XM_006712039.3:c.3900C>T	XP_006712102.1:p.Ile1300=
XM_006712040.2:c.3486C>T	XP_006712103.1:p.Ile1162=
XM_011532950.3:c.4263C>T	XP_011531252.1:p.Ile1421=
XM_011532951.2:c.4092C>T	XP_011531253.1:p.Ile1364=
XM_017004430.1:c.3486C>T	XP_016859919.1:p.Ile1162=
XM_024452974.1:c.4446C>T	XP_024308742.1:p.Ile1482=
NM_001369346.1:c.4092C>T	NP_001356275.1:p.Ile1364=
NM_001369347.1:c.3486C>T	NP_001356276.1:p.Ile1162=
NM_018263.6:c.4266C>T MANE Select	NP_060733.4:p.Ile1422=