Canonical Allele Identifier: CA346073527

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742073-T-C
• MyVariant Identifiers: chr2:g.25964942T>C (hg19) ; chr2:g.25742073T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742073T>C , CM000664.2:g.25742073T>C	GRCh38
NC_000002.11:g.25964942T>C , CM000664.1:g.25964942T>C	GRCh37
NC_000002.10:g.25818446T>C	NCBI36
NG_052995.1:g.141444A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4261A>G	ENSP00000337250.5:p.Ile1421Val
ENST00000435504.9:c.4264A>G MANE Select	ENSP00000391447.3:p.Ile1422Val
ENST00000336112.8:c.4180A>G	ENSP00000337250.4:p.Ile1394Val
ENST00000404843.5:c.2713A>G	ENSP00000383920.1:p.Ile905Val
ENST00000435504.8:c.4264A>G	ENSP00000391447.3:p.Ile1422Val
NM_018263.4:c.4264A>G	NP_060733.4:p.Ile1422Val
XM_006712039.2:c.3898A>G	XP_006712102.1:p.Ile1300Val
XM_006712040.1:c.3484A>G	XP_006712103.1:p.Ile1162Val
XM_011532950.1:c.4261A>G	XP_011531252.1:p.Ile1421Val
XM_011532951.1:c.4090A>G	XP_011531253.1:p.Ile1364Val
NM_018263.5:c.4264A>G	NP_060733.4:p.Ile1422Val
XM_006712039.3:c.3898A>G	XP_006712102.1:p.Ile1300Val
XM_006712040.2:c.3484A>G	XP_006712103.1:p.Ile1162Val
XM_011532950.3:c.4261A>G	XP_011531252.1:p.Ile1421Val
XM_011532951.2:c.4090A>G	XP_011531253.1:p.Ile1364Val
XM_017004430.1:c.3484A>G	XP_016859919.1:p.Ile1162Val
XM_024452974.1:c.4444A>G	XP_024308742.1:p.Ile1482Val
NM_001369346.1:c.4090A>G	NP_001356275.1:p.Ile1364Val
NM_001369347.1:c.3484A>G	NP_001356276.1:p.Ile1162Val
NM_018263.6:c.4264A>G MANE Select	NP_060733.4:p.Ile1422Val