Canonical Allele Identifier: CA2533243214

Gene: ASXL2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742439_25742440insAGATCGGAAGAGC , CM000664.2:g.25742439_25742440insAGATCGGAAGAGC	GRCh38
NC_000002.11:g.25965308_25965309insAGATCGGAAGAGC , CM000664.1:g.25965308_25965309insAGATCGGAAGAGC	GRCh37
NC_000002.10:g.25818812_25818813insAGATCGGAAGAGC	NCBI36
NG_052995.1:g.141077_141078insGCTCTTCCGATCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3894_3895insGCTCTTCCGATCT	ENSP00000337250.5:p.Ser1299AlafsTer5
ENST00000435504.9:c.3897_3898insGCTCTTCCGATCT MANE Select	ENSP00000391447.3:p.Ser1300AlafsTer5
ENST00000336112.8:c.3813_3814insGCTCTTCCGATCT	ENSP00000337250.4:p.Ser1272AlafsTer5
ENST00000404843.5:c.2346_2347insGCTCTTCCGATCT	ENSP00000383920.1:p.Ser783AlafsTer5
ENST00000435504.8:c.3897_3898insGCTCTTCCGATCT	ENSP00000391447.3:p.Ser1300AlafsTer5
NM_018263.4:c.3897_3898insGCTCTTCCGATCT	NP_060733.4:p.Ser1300AlafsTer5
XM_006712039.2:c.3531_3532insGCTCTTCCGATCT	XP_006712102.1:p.Ser1178AlafsTer5
XM_006712040.1:c.3117_3118insGCTCTTCCGATCT	XP_006712103.1:p.Ser1040AlafsTer5
XM_011532950.1:c.3894_3895insGCTCTTCCGATCT	XP_011531252.1:p.Ser1299AlafsTer5
XM_011532951.1:c.3723_3724insGCTCTTCCGATCT	XP_011531253.1:p.Ser1242AlafsTer5
NM_018263.5:c.3897_3898insGCTCTTCCGATCT	NP_060733.4:p.Ser1300AlafsTer5
XM_006712039.3:c.3531_3532insGCTCTTCCGATCT	XP_006712102.1:p.Ser1178AlafsTer5
XM_006712040.2:c.3117_3118insGCTCTTCCGATCT	XP_006712103.1:p.Ser1040AlafsTer5
XM_011532950.3:c.3894_3895insGCTCTTCCGATCT	XP_011531252.1:p.Ser1299AlafsTer5
XM_011532951.2:c.3723_3724insGCTCTTCCGATCT	XP_011531253.1:p.Ser1242AlafsTer5
XM_017004430.1:c.3117_3118insGCTCTTCCGATCT	XP_016859919.1:p.Ser1040AlafsTer5
XM_024452974.1:c.4077_4078insGCTCTTCCGATCT	XP_024308742.1:p.Ser1360AlafsTer5
NM_001369346.1:c.3723_3724insGCTCTTCCGATCT	NP_001356275.1:p.Ser1242AlafsTer5
NM_001369347.1:c.3117_3118insGCTCTTCCGATCT	NP_001356276.1:p.Ser1040AlafsTer5
NM_018263.6:c.3897_3898insGCTCTTCCGATCT MANE Select	NP_060733.4:p.Ser1300AlafsTer5