Canonical Allele Identifier: CA346076208

Gene: ASXL2

Linked Data

• dbSNP Id: rs1399548423
• gnomAD v3: 2-25742570-A-C
• gnomAD v4: 2-25742570-A-C
• MyVariant Identifiers: chr2:g.25965439A>C (hg19) ; chr2:g.25742570A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742570A>C , CM000664.2:g.25742570A>C	GRCh38
NC_000002.11:g.25965439A>C , CM000664.1:g.25965439A>C	GRCh37
NC_000002.10:g.25818943A>C	NCBI36
NG_052995.1:g.140947T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3764T>G	ENSP00000337250.5:p.Phe1255Cys
ENST00000435504.9:c.3767T>G MANE Select	ENSP00000391447.3:p.Phe1256Cys
ENST00000336112.8:c.3683T>G	ENSP00000337250.4:p.Phe1228Cys
ENST00000404843.5:c.2216T>G	ENSP00000383920.1:p.Phe739Cys
ENST00000435504.8:c.3767T>G	ENSP00000391447.3:p.Phe1256Cys
NM_018263.4:c.3767T>G	NP_060733.4:p.Phe1256Cys
XM_006712039.2:c.3401T>G	XP_006712102.1:p.Phe1134Cys
XM_006712040.1:c.2987T>G	XP_006712103.1:p.Phe996Cys
XM_011532950.1:c.3764T>G	XP_011531252.1:p.Phe1255Cys
XM_011532951.1:c.3593T>G	XP_011531253.1:p.Phe1198Cys
NM_018263.5:c.3767T>G	NP_060733.4:p.Phe1256Cys
XM_006712039.3:c.3401T>G	XP_006712102.1:p.Phe1134Cys
XM_006712040.2:c.2987T>G	XP_006712103.1:p.Phe996Cys
XM_011532950.3:c.3764T>G	XP_011531252.1:p.Phe1255Cys
XM_011532951.2:c.3593T>G	XP_011531253.1:p.Phe1198Cys
XM_017004430.1:c.2987T>G	XP_016859919.1:p.Phe996Cys
XM_024452974.1:c.3947T>G	XP_024308742.1:p.Phe1316Cys
NM_001369346.1:c.3593T>G	NP_001356275.1:p.Phe1198Cys
NM_001369347.1:c.2987T>G	NP_001356276.1:p.Phe996Cys
NM_018263.6:c.3767T>G MANE Select	NP_060733.4:p.Phe1256Cys