Canonical Allele Identifier: CA531761030

Gene: ASXL2

Linked Data

• dbSNP Id: rs1376718013
• gnomAD v2: 2-25965352-CT-C
• gnomAD v4: 2-25742483-CT-C
• MyVariant Identifiers: chr2:g.25965353del (hg19) ; chr2:g.25742484del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742484del , CM000664.2:g.25742484del	GRCh38
NC_000002.11:g.25965353del , CM000664.1:g.25965353del	GRCh37
NC_000002.10:g.25818857del	NCBI36
NG_052995.1:g.141033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3850del	ENSP00000337250.5:p.Ser1284AlafsTer?
ENST00000435504.9:c.3853del MANE Select	ENSP00000391447.3:p.Ser1285AlafsTer?
ENST00000336112.8:c.3769del	ENSP00000337250.4:p.Ser1257AlafsTer?
ENST00000404843.5:c.2302del	ENSP00000383920.1:p.Ser768AlafsTer?
ENST00000435504.8:c.3853del	ENSP00000391447.3:p.Ser1285AlafsTer?
NM_018263.4:c.3853del	NP_060733.4:p.Ser1285AlafsTer?
XM_006712039.2:c.3487del	XP_006712102.1:p.Ser1163AlafsTer?
XM_006712040.1:c.3073del	XP_006712103.1:p.Ser1025AlafsTer?
XM_011532950.1:c.3850del	XP_011531252.1:p.Ser1284AlafsTer?
XM_011532951.1:c.3679del	XP_011531253.1:p.Ser1227AlafsTer?
NM_018263.5:c.3853del	NP_060733.4:p.Ser1285AlafsTer?
XM_006712039.3:c.3487del	XP_006712102.1:p.Ser1163AlafsTer?
XM_006712040.2:c.3073del	XP_006712103.1:p.Ser1025AlafsTer?
XM_011532950.3:c.3850del	XP_011531252.1:p.Ser1284AlafsTer?
XM_011532951.2:c.3679del	XP_011531253.1:p.Ser1227AlafsTer?
XM_017004430.1:c.3073del	XP_016859919.1:p.Ser1025AlafsTer?
XM_024452974.1:c.4033del	XP_024308742.1:p.Ser1345AlafsTer?
NM_001369346.1:c.3679del	NP_001356275.1:p.Ser1227AlafsTer?
NM_001369347.1:c.3073del	NP_001356276.1:p.Ser1025AlafsTer?
NM_018263.6:c.3853del MANE Select	NP_060733.4:p.Ser1285AlafsTer?