Canonical Allele Identifier: CA43734282

Gene: ASXL2

Linked Data

• dbSNP Id: rs61744554
• gnomAD v3: 2-25742435-G-A
• gnomAD v4: 2-25742435-G-A
• MyVariant Identifiers: chr2:g.25965304G>A (hg19) ; chr2:g.25742435G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742435G>A , CM000664.2:g.25742435G>A	GRCh38
NC_000002.11:g.25965304G>A , CM000664.1:g.25965304G>A	GRCh37
NC_000002.10:g.25818808G>A	NCBI36
NG_052995.1:g.141082C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3899C>T	ENSP00000337250.5:p.Pro1300Leu
ENST00000435504.9:c.3902C>T MANE Select	ENSP00000391447.3:p.Pro1301Leu
ENST00000336112.8:c.3818C>T	ENSP00000337250.4:p.Pro1273Leu
ENST00000404843.5:c.2351C>T	ENSP00000383920.1:p.Pro784Leu
ENST00000435504.8:c.3902C>T	ENSP00000391447.3:p.Pro1301Leu
NM_018263.4:c.3902C>T	NP_060733.4:p.Pro1301Leu
XM_006712039.2:c.3536C>T	XP_006712102.1:p.Pro1179Leu
XM_006712040.1:c.3122C>T	XP_006712103.1:p.Pro1041Leu
XM_011532950.1:c.3899C>T	XP_011531252.1:p.Pro1300Leu
XM_011532951.1:c.3728C>T	XP_011531253.1:p.Pro1243Leu
NM_018263.5:c.3902C>T	NP_060733.4:p.Pro1301Leu
XM_006712039.3:c.3536C>T	XP_006712102.1:p.Pro1179Leu
XM_006712040.2:c.3122C>T	XP_006712103.1:p.Pro1041Leu
XM_011532950.3:c.3899C>T	XP_011531252.1:p.Pro1300Leu
XM_011532951.2:c.3728C>T	XP_011531253.1:p.Pro1243Leu
XM_017004430.1:c.3122C>T	XP_016859919.1:p.Pro1041Leu
XM_024452974.1:c.4082C>T	XP_024308742.1:p.Pro1361Leu
NM_001369346.1:c.3728C>T	NP_001356275.1:p.Pro1243Leu
NM_001369347.1:c.3122C>T	NP_001356276.1:p.Pro1041Leu
NM_018263.6:c.3902C>T MANE Select	NP_060733.4:p.Pro1301Leu