Canonical Allele Identifier: CA346076212

Gene: ASXL2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3764T>C	ENSP00000337250.5:p.Phe1255Ser
ENST00000435504.9:c.3767T>C MANE Select	ENSP00000391447.3:p.Phe1256Ser
ENST00000336112.8:c.3683T>C	ENSP00000337250.4:p.Phe1228Ser
ENST00000404843.5:c.2216T>C	ENSP00000383920.1:p.Phe739Ser
ENST00000435504.8:c.3767T>C	ENSP00000391447.3:p.Phe1256Ser
NM_018263.4:c.3767T>C	NP_060733.4:p.Phe1256Ser
XM_006712039.2:c.3401T>C	XP_006712102.1:p.Phe1134Ser
XM_006712040.1:c.2987T>C	XP_006712103.1:p.Phe996Ser
XM_011532950.1:c.3764T>C	XP_011531252.1:p.Phe1255Ser
XM_011532951.1:c.3593T>C	XP_011531253.1:p.Phe1198Ser
NM_018263.5:c.3767T>C	NP_060733.4:p.Phe1256Ser
XM_006712039.3:c.3401T>C	XP_006712102.1:p.Phe1134Ser
XM_006712040.2:c.2987T>C	XP_006712103.1:p.Phe996Ser
XM_011532950.3:c.3764T>C	XP_011531252.1:p.Phe1255Ser
XM_011532951.2:c.3593T>C	XP_011531253.1:p.Phe1198Ser
XM_017004430.1:c.2987T>C	XP_016859919.1:p.Phe996Ser
XM_024452974.1:c.3947T>C	XP_024308742.1:p.Phe1316Ser
NM_001369346.1:c.3593T>C	NP_001356275.1:p.Phe1198Ser
NM_001369347.1:c.2987T>C	NP_001356276.1:p.Phe996Ser
NM_018263.6:c.3767T>C MANE Select	NP_060733.4:p.Phe1256Ser