Canonical Allele Identifier: CA346073726

Gene: ASXL2

Linked Data

• dbSNP Id: rs1402223554
• gnomAD v2: 2-25965028-A-G
• gnomAD v4: 2-25742159-A-G
• COSMIC: COSM4093287 ; COSM4093288
• MyVariant Identifiers: chr2:g.25965028A>G (hg19) ; chr2:g.25742159A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742159A>G , CM000664.2:g.25742159A>G	GRCh38
NC_000002.11:g.25965028A>G , CM000664.1:g.25965028A>G	GRCh37
NC_000002.10:g.25818532A>G	NCBI36
NG_052995.1:g.141358T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4175T>C	ENSP00000337250.5:p.Ile1392Thr
ENST00000435504.9:c.4178T>C MANE Select	ENSP00000391447.3:p.Ile1393Thr
ENST00000336112.8:c.4094T>C	ENSP00000337250.4:p.Ile1365Thr
ENST00000404843.5:c.2627T>C	ENSP00000383920.1:p.Ile876Thr
ENST00000435504.8:c.4178T>C	ENSP00000391447.3:p.Ile1393Thr
NM_018263.4:c.4178T>C	NP_060733.4:p.Ile1393Thr
XM_006712039.2:c.3812T>C	XP_006712102.1:p.Ile1271Thr
XM_006712040.1:c.3398T>C	XP_006712103.1:p.Ile1133Thr
XM_011532950.1:c.4175T>C	XP_011531252.1:p.Ile1392Thr
XM_011532951.1:c.4004T>C	XP_011531253.1:p.Ile1335Thr
NM_018263.5:c.4178T>C	NP_060733.4:p.Ile1393Thr
XM_006712039.3:c.3812T>C	XP_006712102.1:p.Ile1271Thr
XM_006712040.2:c.3398T>C	XP_006712103.1:p.Ile1133Thr
XM_011532950.3:c.4175T>C	XP_011531252.1:p.Ile1392Thr
XM_011532951.2:c.4004T>C	XP_011531253.1:p.Ile1335Thr
XM_017004430.1:c.3398T>C	XP_016859919.1:p.Ile1133Thr
XM_024452974.1:c.4358T>C	XP_024308742.1:p.Ile1453Thr
NM_001369346.1:c.4004T>C	NP_001356275.1:p.Ile1335Thr
NM_001369347.1:c.3398T>C	NP_001356276.1:p.Ile1133Thr
NM_018263.6:c.4178T>C MANE Select	NP_060733.4:p.Ile1393Thr