Canonical Allele Identifier: CA1557360

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 377157
• ClinVar RCV Id: RCV000428840 ; RCV002480279
• dbSNP Id: rs115221221
• ExAC: 2:25965095 G / T
• gnomAD v2: 2-25965095-G-T
• gnomAD v3: 2-25742226-G-T
• gnomAD v4: 2-25742226-G-T
• MyVariant Identifiers: chr2:g.25965095G>T (hg19) ; chr2:g.25742226G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742226G>T , CM000664.2:g.25742226G>T	GRCh38
NC_000002.11:g.25965095G>T , CM000664.1:g.25965095G>T	GRCh37
NC_000002.10:g.25818599G>T	NCBI36
NG_052995.1:g.141291C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000336112.9:c.4108C>A	ENSP00000337250.5:p.Gln1370Lys
ENST00000435504.9:c.4111C>A MANE Select	ENSP00000391447.3:p.Gln1371Lys
ENST00000336112.8:c.4027C>A	ENSP00000337250.4:p.Gln1343Lys
ENST00000404843.5:c.2560C>A	ENSP00000383920.1:p.Gln854Lys
ENST00000435504.8:c.4111C>A	ENSP00000391447.3:p.Gln1371Lys
NM_018263.4:c.4111C>A	NP_060733.4:p.Gln1371Lys
XM_006712039.2:c.3745C>A	XP_006712102.1:p.Gln1249Lys
XM_006712040.1:c.3331C>A	XP_006712103.1:p.Gln1111Lys
XM_011532950.1:c.4108C>A	XP_011531252.1:p.Gln1370Lys
XM_011532951.1:c.3937C>A	XP_011531253.1:p.Gln1313Lys
NM_018263.5:c.4111C>A	NP_060733.4:p.Gln1371Lys
XM_006712039.3:c.3745C>A	XP_006712102.1:p.Gln1249Lys
XM_006712040.2:c.3331C>A	XP_006712103.1:p.Gln1111Lys
XM_011532950.3:c.4108C>A	XP_011531252.1:p.Gln1370Lys
XM_011532951.2:c.3937C>A	XP_011531253.1:p.Gln1313Lys
XM_017004430.1:c.3331C>A	XP_016859919.1:p.Gln1111Lys
XM_024452974.1:c.4291C>A	XP_024308742.1:p.Gln1431Lys
NM_001369346.1:c.3937C>A	NP_001356275.1:p.Gln1313Lys
NM_001369347.1:c.3331C>A	NP_001356276.1:p.Gln1111Lys
NM_018263.6:c.4111C>A MANE Select	NP_060733.4:p.Gln1371Lys