Canonical Allele Identifier: CA1557385

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 1376565
• ClinVar RCV Id: RCV001885989
• dbSNP Id: rs548343899
• ExAC: 2:25965232 G / C
• gnomAD v2: 2-25965232-G-C
• gnomAD v3: 2-25742363-G-C
• gnomAD v4: 2-25742363-G-C
• MyVariant Identifiers: chr2:g.25965232G>C (hg19) ; chr2:g.25742363G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742363G>C , CM000664.2:g.25742363G>C	GRCh38
NC_000002.11:g.25965232G>C , CM000664.1:g.25965232G>C	GRCh37
NC_000002.10:g.25818736G>C	NCBI36
NG_052995.1:g.141154C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3971C>G	ENSP00000337250.5:p.Pro1324Arg
ENST00000435504.9:c.3974C>G MANE Select	ENSP00000391447.3:p.Pro1325Arg
ENST00000336112.8:c.3890C>G	ENSP00000337250.4:p.Pro1297Arg
ENST00000404843.5:c.2423C>G	ENSP00000383920.1:p.Pro808Arg
ENST00000435504.8:c.3974C>G	ENSP00000391447.3:p.Pro1325Arg
NM_018263.4:c.3974C>G	NP_060733.4:p.Pro1325Arg
XM_006712039.2:c.3608C>G	XP_006712102.1:p.Pro1203Arg
XM_006712040.1:c.3194C>G	XP_006712103.1:p.Pro1065Arg
XM_011532950.1:c.3971C>G	XP_011531252.1:p.Pro1324Arg
XM_011532951.1:c.3800C>G	XP_011531253.1:p.Pro1267Arg
NM_018263.5:c.3974C>G	NP_060733.4:p.Pro1325Arg
XM_006712039.3:c.3608C>G	XP_006712102.1:p.Pro1203Arg
XM_006712040.2:c.3194C>G	XP_006712103.1:p.Pro1065Arg
XM_011532950.3:c.3971C>G	XP_011531252.1:p.Pro1324Arg
XM_011532951.2:c.3800C>G	XP_011531253.1:p.Pro1267Arg
XM_017004430.1:c.3194C>G	XP_016859919.1:p.Pro1065Arg
XM_024452974.1:c.4154C>G	XP_024308742.1:p.Pro1385Arg
NM_001369346.1:c.3800C>G	NP_001356275.1:p.Pro1267Arg
NM_001369347.1:c.3194C>G	NP_001356276.1:p.Pro1065Arg
NM_018263.6:c.3974C>G MANE Select	NP_060733.4:p.Pro1325Arg