Canonical Allele Identifier: CA1557395

Gene: ASXL2

Linked Data

• dbSNP Id: rs771593827
• ExAC: 2:25965267 G / A
• gnomAD v2: 2-25965267-G-A
• gnomAD v4: 2-25742398-G-A
• MyVariant Identifiers: chr2:g.25965267G>A (hg19) ; chr2:g.25742398G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742398G>A , CM000664.2:g.25742398G>A	GRCh38
NC_000002.11:g.25965267G>A , CM000664.1:g.25965267G>A	GRCh37
NC_000002.10:g.25818771G>A	NCBI36
NG_052995.1:g.141119C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3936C>T	ENSP00000337250.5:p.Thr1312=
ENST00000435504.9:c.3939C>T MANE Select	ENSP00000391447.3:p.Thr1313=
ENST00000336112.8:c.3855C>T	ENSP00000337250.4:p.Thr1285=
ENST00000404843.5:c.2388C>T	ENSP00000383920.1:p.Thr796=
ENST00000435504.8:c.3939C>T	ENSP00000391447.3:p.Thr1313=
NM_018263.4:c.3939C>T	NP_060733.4:p.Thr1313=
XM_006712039.2:c.3573C>T	XP_006712102.1:p.Thr1191=
XM_006712040.1:c.3159C>T	XP_006712103.1:p.Thr1053=
XM_011532950.1:c.3936C>T	XP_011531252.1:p.Thr1312=
XM_011532951.1:c.3765C>T	XP_011531253.1:p.Thr1255=
NM_018263.5:c.3939C>T	NP_060733.4:p.Thr1313=
XM_006712039.3:c.3573C>T	XP_006712102.1:p.Thr1191=
XM_006712040.2:c.3159C>T	XP_006712103.1:p.Thr1053=
XM_011532950.3:c.3936C>T	XP_011531252.1:p.Thr1312=
XM_011532951.2:c.3765C>T	XP_011531253.1:p.Thr1255=
XM_017004430.1:c.3159C>T	XP_016859919.1:p.Thr1053=
XM_024452974.1:c.4119C>T	XP_024308742.1:p.Thr1373=
NM_001369346.1:c.3765C>T	NP_001356275.1:p.Thr1255=
NM_001369347.1:c.3159C>T	NP_001356276.1:p.Thr1053=
NM_018263.6:c.3939C>T MANE Select	NP_060733.4:p.Thr1313=