Canonical Allele Identifier: CA425181252

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2650732
• ClinVar RCV Id: RCV003415521
• dbSNP Id: rs2087837870
• gnomAD v4: 2-25742056-C-G
• MyVariant Identifiers: chr2:g.25964925C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742056C>G , CM000664.2:g.25742056C>G	GRCh38
NC_000002.11:g.25964925C>G , CM000664.1:g.25964925C>G	GRCh37
NC_000002.10:g.25818429C>G	NCBI36
NG_052995.1:g.141461G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4278G>C	ENSP00000337250.5:p.Leu1426=
ENST00000435504.9:c.4281G>C MANE Select	ENSP00000391447.3:p.Leu1427=
ENST00000336112.8:c.4197G>C	ENSP00000337250.4:p.Leu1399=
ENST00000404843.5:c.2730G>C	ENSP00000383920.1:p.Leu910=
ENST00000435504.8:c.4281G>C	ENSP00000391447.3:p.Leu1427=
NM_018263.4:c.4281G>C	NP_060733.4:p.Leu1427=
XM_006712039.2:c.3915G>C	XP_006712102.1:p.Leu1305=
XM_006712040.1:c.3501G>C	XP_006712103.1:p.Leu1167=
XM_011532950.1:c.4278G>C	XP_011531252.1:p.Leu1426=
XM_011532951.1:c.4107G>C	XP_011531253.1:p.Leu1369=
NM_018263.5:c.4281G>C	NP_060733.4:p.Leu1427=
XM_006712039.3:c.3915G>C	XP_006712102.1:p.Leu1305=
XM_006712040.2:c.3501G>C	XP_006712103.1:p.Leu1167=
XM_011532950.3:c.4278G>C	XP_011531252.1:p.Leu1426=
XM_011532951.2:c.4107G>C	XP_011531253.1:p.Leu1369=
XM_017004430.1:c.3501G>C	XP_016859919.1:p.Leu1167=
XM_024452974.1:c.4461G>C	XP_024308742.1:p.Leu1487=
NM_001369346.1:c.4107G>C	NP_001356275.1:p.Leu1369=
NM_001369347.1:c.3501G>C	NP_001356276.1:p.Leu1167=
NM_018263.6:c.4281G>C MANE Select	NP_060733.4:p.Leu1427=