Canonical Allele Identifier: CA346073659

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742127-A-T
• MyVariant Identifiers: chr2:g.25964996A>T (hg19) ; chr2:g.25742127A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742127A>T , CM000664.2:g.25742127A>T	GRCh38
NC_000002.11:g.25964996A>T , CM000664.1:g.25964996A>T	GRCh37
NC_000002.10:g.25818500A>T	NCBI36
NG_052995.1:g.141390T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4207T>A	ENSP00000337250.5:p.Leu1403Met
ENST00000435504.9:c.4210T>A MANE Select	ENSP00000391447.3:p.Leu1404Met
ENST00000336112.8:c.4126T>A	ENSP00000337250.4:p.Leu1376Met
ENST00000404843.5:c.2659T>A	ENSP00000383920.1:p.Leu887Met
ENST00000435504.8:c.4210T>A	ENSP00000391447.3:p.Leu1404Met
NM_018263.4:c.4210T>A	NP_060733.4:p.Leu1404Met
XM_006712039.2:c.3844T>A	XP_006712102.1:p.Leu1282Met
XM_006712040.1:c.3430T>A	XP_006712103.1:p.Leu1144Met
XM_011532950.1:c.4207T>A	XP_011531252.1:p.Leu1403Met
XM_011532951.1:c.4036T>A	XP_011531253.1:p.Leu1346Met
NM_018263.5:c.4210T>A	NP_060733.4:p.Leu1404Met
XM_006712039.3:c.3844T>A	XP_006712102.1:p.Leu1282Met
XM_006712040.2:c.3430T>A	XP_006712103.1:p.Leu1144Met
XM_011532950.3:c.4207T>A	XP_011531252.1:p.Leu1403Met
XM_011532951.2:c.4036T>A	XP_011531253.1:p.Leu1346Met
XM_017004430.1:c.3430T>A	XP_016859919.1:p.Leu1144Met
XM_024452974.1:c.4390T>A	XP_024308742.1:p.Leu1464Met
NM_001369346.1:c.4036T>A	NP_001356275.1:p.Leu1346Met
NM_001369347.1:c.3430T>A	NP_001356276.1:p.Leu1144Met
NM_018263.6:c.4210T>A MANE Select	NP_060733.4:p.Leu1404Met