Canonical Allele Identifier: CA425181270

Gene: ASXL2

Linked Data

• dbSNP Id: rs1331443023
• gnomAD v3: 2-25742086-G-A
• gnomAD v4: 2-25742086-G-A
• COSMIC: COSM4093285 ; COSM4093286
• MyVariant Identifiers: chr2:g.25964955G>A (hg19) ; chr2:g.25742086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742086G>A , CM000664.2:g.25742086G>A	GRCh38
NC_000002.11:g.25964955G>A , CM000664.1:g.25964955G>A	GRCh37
NC_000002.10:g.25818459G>A	NCBI36
NG_052995.1:g.141431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4248C>T	ENSP00000337250.5:p.Cys1416=
ENST00000435504.9:c.4251C>T MANE Select	ENSP00000391447.3:p.Cys1417=
ENST00000336112.8:c.4167C>T	ENSP00000337250.4:p.Cys1389=
ENST00000404843.5:c.2700C>T	ENSP00000383920.1:p.Cys900=
ENST00000435504.8:c.4251C>T	ENSP00000391447.3:p.Cys1417=
NM_018263.4:c.4251C>T	NP_060733.4:p.Cys1417=
XM_006712039.2:c.3885C>T	XP_006712102.1:p.Cys1295=
XM_006712040.1:c.3471C>T	XP_006712103.1:p.Cys1157=
XM_011532950.1:c.4248C>T	XP_011531252.1:p.Cys1416=
XM_011532951.1:c.4077C>T	XP_011531253.1:p.Cys1359=
NM_018263.5:c.4251C>T	NP_060733.4:p.Cys1417=
XM_006712039.3:c.3885C>T	XP_006712102.1:p.Cys1295=
XM_006712040.2:c.3471C>T	XP_006712103.1:p.Cys1157=
XM_011532950.3:c.4248C>T	XP_011531252.1:p.Cys1416=
XM_011532951.2:c.4077C>T	XP_011531253.1:p.Cys1359=
XM_017004430.1:c.3471C>T	XP_016859919.1:p.Cys1157=
XM_024452974.1:c.4431C>T	XP_024308742.1:p.Cys1477=
NM_001369346.1:c.4077C>T	NP_001356275.1:p.Cys1359=
NM_001369347.1:c.3471C>T	NP_001356276.1:p.Cys1157=
NM_018263.6:c.4251C>T MANE Select	NP_060733.4:p.Cys1417=