Canonical Allele Identifier: CA346075027

Gene: ASXL2

Linked Data

• dbSNP Id: rs2149135709
• gnomAD v3: 2-25742381-C-T
• gnomAD v4: 2-25742381-C-T
• MyVariant Identifiers: chr2:g.25965250C>T (hg19) ; chr2:g.25742381C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742381C>T , CM000664.2:g.25742381C>T	GRCh38
NC_000002.11:g.25965250C>T , CM000664.1:g.25965250C>T	GRCh37
NC_000002.10:g.25818754C>T	NCBI36
NG_052995.1:g.141136G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3953G>A	ENSP00000337250.5:p.Ser1318Asn
ENST00000435504.9:c.3956G>A MANE Select	ENSP00000391447.3:p.Ser1319Asn
ENST00000336112.8:c.3872G>A	ENSP00000337250.4:p.Ser1291Asn
ENST00000404843.5:c.2405G>A	ENSP00000383920.1:p.Ser802Asn
ENST00000435504.8:c.3956G>A	ENSP00000391447.3:p.Ser1319Asn
NM_018263.4:c.3956G>A	NP_060733.4:p.Ser1319Asn
XM_006712039.2:c.3590G>A	XP_006712102.1:p.Ser1197Asn
XM_006712040.1:c.3176G>A	XP_006712103.1:p.Ser1059Asn
XM_011532950.1:c.3953G>A	XP_011531252.1:p.Ser1318Asn
XM_011532951.1:c.3782G>A	XP_011531253.1:p.Ser1261Asn
NM_018263.5:c.3956G>A	NP_060733.4:p.Ser1319Asn
XM_006712039.3:c.3590G>A	XP_006712102.1:p.Ser1197Asn
XM_006712040.2:c.3176G>A	XP_006712103.1:p.Ser1059Asn
XM_011532950.3:c.3953G>A	XP_011531252.1:p.Ser1318Asn
XM_011532951.2:c.3782G>A	XP_011531253.1:p.Ser1261Asn
XM_017004430.1:c.3176G>A	XP_016859919.1:p.Ser1059Asn
XM_024452974.1:c.4136G>A	XP_024308742.1:p.Ser1379Asn
NM_001369346.1:c.3782G>A	NP_001356275.1:p.Ser1261Asn
NM_001369347.1:c.3176G>A	NP_001356276.1:p.Ser1059Asn
NM_018263.6:c.3956G>A MANE Select	NP_060733.4:p.Ser1319Asn