Canonical Allele Identifier: CA425354624

Gene: ASXL2

Linked Data

• dbSNP Id: rs1428254706
• gnomAD v4: 2-25742341-A-G
• MyVariant Identifiers: chr2:g.25965210A>G (hg19) ; chr2:g.25742341A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742341A>G , CM000664.2:g.25742341A>G	GRCh38
NC_000002.11:g.25965210A>G , CM000664.1:g.25965210A>G	GRCh37
NC_000002.10:g.25818714A>G	NCBI36
NG_052995.1:g.141176T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3993T>C	ENSP00000337250.5:p.Asn1331=
ENST00000435504.9:c.3996T>C MANE Select	ENSP00000391447.3:p.Asn1332=
ENST00000336112.8:c.3912T>C	ENSP00000337250.4:p.Asn1304=
ENST00000404843.5:c.2445T>C	ENSP00000383920.1:p.Asn815=
ENST00000435504.8:c.3996T>C	ENSP00000391447.3:p.Asn1332=
NM_018263.4:c.3996T>C	NP_060733.4:p.Asn1332=
XM_006712039.2:c.3630T>C	XP_006712102.1:p.Asn1210=
XM_006712040.1:c.3216T>C	XP_006712103.1:p.Asn1072=
XM_011532950.1:c.3993T>C	XP_011531252.1:p.Asn1331=
XM_011532951.1:c.3822T>C	XP_011531253.1:p.Asn1274=
NM_018263.5:c.3996T>C	NP_060733.4:p.Asn1332=
XM_006712039.3:c.3630T>C	XP_006712102.1:p.Asn1210=
XM_006712040.2:c.3216T>C	XP_006712103.1:p.Asn1072=
XM_011532950.3:c.3993T>C	XP_011531252.1:p.Asn1331=
XM_011532951.2:c.3822T>C	XP_011531253.1:p.Asn1274=
XM_017004430.1:c.3216T>C	XP_016859919.1:p.Asn1072=
XM_024452974.1:c.4176T>C	XP_024308742.1:p.Asn1392=
NM_001369346.1:c.3822T>C	NP_001356275.1:p.Asn1274=
NM_001369347.1:c.3216T>C	NP_001356276.1:p.Asn1072=
NM_018263.6:c.3996T>C MANE Select	NP_060733.4:p.Asn1332=