Canonical Allele Identifier: CA531761050

Gene: ASXL2

Linked Data

• dbSNP Id: rs1553690949
• gnomAD v2: 2-25964922-GCA-G
• gnomAD v3: 2-25742053-GCA-G
• gnomAD v4: 2-25742053-GCA-G
• MyVariant Identifiers: chr2:g.25964923_25964924del (hg19) ; chr2:g.25742054_25742055del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742056_25742057del , CM000664.2:g.25742056_25742057del	GRCh38
NC_000002.11:g.25964925_25964926del , CM000664.1:g.25964925_25964926del	GRCh37
NC_000002.10:g.25818429_25818430del	NCBI36
NG_052995.1:g.141462_141463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4279_4280del	ENSP00000337250.5:p.Cys1427ArgfsTer17
ENST00000435504.9:c.4282_4283del MANE Select	ENSP00000391447.3:p.Cys1428ArgfsTer17
ENST00000336112.8:c.4198_4199del	ENSP00000337250.4:p.Cys1400ArgfsTer17
ENST00000404843.5:c.2731_2732del	ENSP00000383920.1:p.Cys911ArgfsTer17
ENST00000435504.8:c.4282_4283del	ENSP00000391447.3:p.Cys1428ArgfsTer17
NM_018263.4:c.4282_4283del	NP_060733.4:p.Cys1428ArgfsTer17
XM_006712039.2:c.3916_3917del	XP_006712102.1:p.Cys1306ArgfsTer17
XM_006712040.1:c.3502_3503del	XP_006712103.1:p.Cys1168ArgfsTer17
XM_011532950.1:c.4279_4280del	XP_011531252.1:p.Cys1427ArgfsTer17
XM_011532951.1:c.4108_4109del	XP_011531253.1:p.Cys1370ArgfsTer17
NM_018263.5:c.4282_4283del	NP_060733.4:p.Cys1428ArgfsTer17
XM_006712039.3:c.3916_3917del	XP_006712102.1:p.Cys1306ArgfsTer17
XM_006712040.2:c.3502_3503del	XP_006712103.1:p.Cys1168ArgfsTer17
XM_011532950.3:c.4279_4280del	XP_011531252.1:p.Cys1427ArgfsTer17
XM_011532951.2:c.4108_4109del	XP_011531253.1:p.Cys1370ArgfsTer17
XM_017004430.1:c.3502_3503del	XP_016859919.1:p.Cys1168ArgfsTer17
XM_024452974.1:c.4462_4463del	XP_024308742.1:p.Cys1488ArgfsTer17
NM_001369346.1:c.4108_4109del	NP_001356275.1:p.Cys1370ArgfsTer17
NM_001369347.1:c.3502_3503del	NP_001356276.1:p.Cys1168ArgfsTer17
NM_018263.6:c.4282_4283del MANE Select	NP_060733.4:p.Cys1428ArgfsTer17