Canonical Allele Identifier: CA1557416

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2138514
• ClinVar RCV Id: RCV003041434
• dbSNP Id: rs775732218
• ExAC: 2:25965362 T / A
• gnomAD v2: 2-25965362-T-A
• gnomAD v3: 2-25742493-T-A
• gnomAD v4: 2-25742493-T-A
• MyVariant Identifiers: chr2:g.25965362T>A (hg19) ; chr2:g.25742493T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742493T>A , CM000664.2:g.25742493T>A	GRCh38
NC_000002.11:g.25965362T>A , CM000664.1:g.25965362T>A	GRCh37
NC_000002.10:g.25818866T>A	NCBI36
NG_052995.1:g.141024A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3841A>T	ENSP00000337250.5:p.Ile1281Phe
ENST00000435504.9:c.3844A>T MANE Select	ENSP00000391447.3:p.Ile1282Phe
ENST00000336112.8:c.3760A>T	ENSP00000337250.4:p.Ile1254Phe
ENST00000404843.5:c.2293A>T	ENSP00000383920.1:p.Ile765Phe
ENST00000435504.8:c.3844A>T	ENSP00000391447.3:p.Ile1282Phe
NM_018263.4:c.3844A>T	NP_060733.4:p.Ile1282Phe
XM_006712039.2:c.3478A>T	XP_006712102.1:p.Ile1160Phe
XM_006712040.1:c.3064A>T	XP_006712103.1:p.Ile1022Phe
XM_011532950.1:c.3841A>T	XP_011531252.1:p.Ile1281Phe
XM_011532951.1:c.3670A>T	XP_011531253.1:p.Ile1224Phe
NM_018263.5:c.3844A>T	NP_060733.4:p.Ile1282Phe
XM_006712039.3:c.3478A>T	XP_006712102.1:p.Ile1160Phe
XM_006712040.2:c.3064A>T	XP_006712103.1:p.Ile1022Phe
XM_011532950.3:c.3841A>T	XP_011531252.1:p.Ile1281Phe
XM_011532951.2:c.3670A>T	XP_011531253.1:p.Ile1224Phe
XM_017004430.1:c.3064A>T	XP_016859919.1:p.Ile1022Phe
XM_024452974.1:c.4024A>T	XP_024308742.1:p.Ile1342Phe
NM_001369346.1:c.3670A>T	NP_001356275.1:p.Ile1224Phe
NM_001369347.1:c.3064A>T	NP_001356276.1:p.Ile1022Phe
NM_018263.6:c.3844A>T MANE Select	NP_060733.4:p.Ile1282Phe