Canonical Allele Identifier: CA531761031

Gene: ASXL2

Linked Data

• dbSNP Id: rs1346977988
• gnomAD v2: 2-25965363-T-TAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG
• MyVariant Identifiers: chr2:g.25965363_25965364insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG (hg19) ; chr2:g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG , CM000664.2:g.25742494_25742495insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG	GRCh38
NC_000002.11:g.25965363_25965364insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG , CM000664.1:g.25965363_25965364insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG	GRCh37
NC_000002.10:g.25818867_25818868insAGATCGGAAGAGCGTCGTGTAGGGAAAGAGTGTAGATCTCGGTG	NCBI36
NG_052995.1:g.141022_141023insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3839_3840insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	ENSP00000337250.5:p.Ile1281ThrfsTer15
ENST00000435504.9:c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT MANE Select	ENSP00000391447.3:p.Ile1282ThrfsTer15
ENST00000336112.8:c.3758_3759insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	ENSP00000337250.4:p.Ile1254ThrfsTer15
ENST00000404843.5:c.2291_2292insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	ENSP00000383920.1:p.Ile765ThrfsTer15
ENST00000435504.8:c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	ENSP00000391447.3:p.Ile1282ThrfsTer15
NM_018263.4:c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	NP_060733.4:p.Ile1282ThrfsTer15
XM_006712039.2:c.3476_3477insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_006712102.1:p.Ile1160ThrfsTer15
XM_006712040.1:c.3062_3063insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_006712103.1:p.Ile1022ThrfsTer15
XM_011532950.1:c.3839_3840insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_011531252.1:p.Ile1281ThrfsTer15
XM_011532951.1:c.3668_3669insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_011531253.1:p.Ile1224ThrfsTer15
NM_018263.5:c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	NP_060733.4:p.Ile1282ThrfsTer15
XM_006712039.3:c.3476_3477insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_006712102.1:p.Ile1160ThrfsTer15
XM_006712040.2:c.3062_3063insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_006712103.1:p.Ile1022ThrfsTer15
XM_011532950.3:c.3839_3840insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_011531252.1:p.Ile1281ThrfsTer15
XM_011532951.2:c.3668_3669insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_011531253.1:p.Ile1224ThrfsTer15
XM_017004430.1:c.3062_3063insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_016859919.1:p.Ile1022ThrfsTer15
XM_024452974.1:c.4022_4023insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	XP_024308742.1:p.Ile1342ThrfsTer15
NM_001369346.1:c.3668_3669insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	NP_001356275.1:p.Ile1224ThrfsTer15
NM_001369347.1:c.3062_3063insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT	NP_001356276.1:p.Ile1022ThrfsTer15
NM_018263.6:c.3842_3843insCACCGAGATCTACACTCTTTCCCTACACGACGCTCTTCCGATCT MANE Select	NP_060733.4:p.Ile1282ThrfsTer15