Canonical Allele Identifier: CA346073794

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742192-A-C
• MyVariant Identifiers: chr2:g.25965061A>C (hg19) ; chr2:g.25742192A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742192A>C , CM000664.2:g.25742192A>C	GRCh38
NC_000002.11:g.25965061A>C , CM000664.1:g.25965061A>C	GRCh37
NC_000002.10:g.25818565A>C	NCBI36
NG_052995.1:g.141325T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4142T>G	ENSP00000337250.5:p.Ile1381Ser
ENST00000435504.9:c.4145T>G MANE Select	ENSP00000391447.3:p.Ile1382Ser
ENST00000336112.8:c.4061T>G	ENSP00000337250.4:p.Ile1354Ser
ENST00000404843.5:c.2594T>G	ENSP00000383920.1:p.Ile865Ser
ENST00000435504.8:c.4145T>G	ENSP00000391447.3:p.Ile1382Ser
NM_018263.4:c.4145T>G	NP_060733.4:p.Ile1382Ser
XM_006712039.2:c.3779T>G	XP_006712102.1:p.Ile1260Ser
XM_006712040.1:c.3365T>G	XP_006712103.1:p.Ile1122Ser
XM_011532950.1:c.4142T>G	XP_011531252.1:p.Ile1381Ser
XM_011532951.1:c.3971T>G	XP_011531253.1:p.Ile1324Ser
NM_018263.5:c.4145T>G	NP_060733.4:p.Ile1382Ser
XM_006712039.3:c.3779T>G	XP_006712102.1:p.Ile1260Ser
XM_006712040.2:c.3365T>G	XP_006712103.1:p.Ile1122Ser
XM_011532950.3:c.4142T>G	XP_011531252.1:p.Ile1381Ser
XM_011532951.2:c.3971T>G	XP_011531253.1:p.Ile1324Ser
XM_017004430.1:c.3365T>G	XP_016859919.1:p.Ile1122Ser
XM_024452974.1:c.4325T>G	XP_024308742.1:p.Ile1442Ser
NM_001369346.1:c.3971T>G	NP_001356275.1:p.Ile1324Ser
NM_001369347.1:c.3365T>G	NP_001356276.1:p.Ile1122Ser
NM_018263.6:c.4145T>G MANE Select	NP_060733.4:p.Ile1382Ser