Canonical Allele Identifier: CA425354766

Gene: ASXL2

Linked Data

• dbSNP Id: rs558833597
• gnomAD v4: 2-25742395-C-G
• MyVariant Identifiers: chr2:g.25965264C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742395C>G , CM000664.2:g.25742395C>G	GRCh38
NC_000002.11:g.25965264C>G , CM000664.1:g.25965264C>G	GRCh37
NC_000002.10:g.25818768C>G	NCBI36
NG_052995.1:g.141122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3939G>C	ENSP00000337250.5:p.Pro1313=
ENST00000435504.9:c.3942G>C MANE Select	ENSP00000391447.3:p.Pro1314=
ENST00000336112.8:c.3858G>C	ENSP00000337250.4:p.Pro1286=
ENST00000404843.5:c.2391G>C	ENSP00000383920.1:p.Pro797=
ENST00000435504.8:c.3942G>C	ENSP00000391447.3:p.Pro1314=
NM_018263.4:c.3942G>C	NP_060733.4:p.Pro1314=
XM_006712039.2:c.3576G>C	XP_006712102.1:p.Pro1192=
XM_006712040.1:c.3162G>C	XP_006712103.1:p.Pro1054=
XM_011532950.1:c.3939G>C	XP_011531252.1:p.Pro1313=
XM_011532951.1:c.3768G>C	XP_011531253.1:p.Pro1256=
NM_018263.5:c.3942G>C	NP_060733.4:p.Pro1314=
XM_006712039.3:c.3576G>C	XP_006712102.1:p.Pro1192=
XM_006712040.2:c.3162G>C	XP_006712103.1:p.Pro1054=
XM_011532950.3:c.3939G>C	XP_011531252.1:p.Pro1313=
XM_011532951.2:c.3768G>C	XP_011531253.1:p.Pro1256=
XM_017004430.1:c.3162G>C	XP_016859919.1:p.Pro1054=
XM_024452974.1:c.4122G>C	XP_024308742.1:p.Pro1374=
NM_001369346.1:c.3768G>C	NP_001356275.1:p.Pro1256=
NM_001369347.1:c.3162G>C	NP_001356276.1:p.Pro1054=
NM_018263.6:c.3942G>C MANE Select	NP_060733.4:p.Pro1314=