Canonical Allele Identifier: CA346073815

Gene: ASXL2

Linked Data

• dbSNP Id: rs2087840530
• gnomAD v3: 2-25742201-C-T
• gnomAD v4: 2-25742201-C-T
• MyVariant Identifiers: chr2:g.25965070C>T (hg19) ; chr2:g.25742201C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742201C>T , CM000664.2:g.25742201C>T	GRCh38
NC_000002.11:g.25965070C>T , CM000664.1:g.25965070C>T	GRCh37
NC_000002.10:g.25818574C>T	NCBI36
NG_052995.1:g.141316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4133G>A	ENSP00000337250.5:p.Gly1378Asp
ENST00000435504.9:c.4136G>A MANE Select	ENSP00000391447.3:p.Gly1379Asp
ENST00000336112.8:c.4052G>A	ENSP00000337250.4:p.Gly1351Asp
ENST00000404843.5:c.2585G>A	ENSP00000383920.1:p.Gly862Asp
ENST00000435504.8:c.4136G>A	ENSP00000391447.3:p.Gly1379Asp
NM_018263.4:c.4136G>A	NP_060733.4:p.Gly1379Asp
XM_006712039.2:c.3770G>A	XP_006712102.1:p.Gly1257Asp
XM_006712040.1:c.3356G>A	XP_006712103.1:p.Gly1119Asp
XM_011532950.1:c.4133G>A	XP_011531252.1:p.Gly1378Asp
XM_011532951.1:c.3962G>A	XP_011531253.1:p.Gly1321Asp
NM_018263.5:c.4136G>A	NP_060733.4:p.Gly1379Asp
XM_006712039.3:c.3770G>A	XP_006712102.1:p.Gly1257Asp
XM_006712040.2:c.3356G>A	XP_006712103.1:p.Gly1119Asp
XM_011532950.3:c.4133G>A	XP_011531252.1:p.Gly1378Asp
XM_011532951.2:c.3962G>A	XP_011531253.1:p.Gly1321Asp
XM_017004430.1:c.3356G>A	XP_016859919.1:p.Gly1119Asp
XM_024452974.1:c.4316G>A	XP_024308742.1:p.Gly1439Asp
NM_001369346.1:c.3962G>A	NP_001356275.1:p.Gly1321Asp
NM_001369347.1:c.3356G>A	NP_001356276.1:p.Gly1119Asp
NM_018263.6:c.4136G>A MANE Select	NP_060733.4:p.Gly1379Asp