Canonical Allele Identifier: CA346075567

Gene: ASXL2

Linked Data

• MyVariant Identifiers: chr2:g.25965344G>C (hg19) ; chr2:g.25742475G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742475G>C , CM000664.2:g.25742475G>C	GRCh38
NC_000002.11:g.25965344G>C , CM000664.1:g.25965344G>C	GRCh37
NC_000002.10:g.25818848G>C	NCBI36
NG_052995.1:g.141042C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3859C>G	ENSP00000337250.5:p.Leu1287Val
ENST00000435504.9:c.3862C>G MANE Select	ENSP00000391447.3:p.Leu1288Val
ENST00000336112.8:c.3778C>G	ENSP00000337250.4:p.Leu1260Val
ENST00000404843.5:c.2311C>G	ENSP00000383920.1:p.Leu771Val
ENST00000435504.8:c.3862C>G	ENSP00000391447.3:p.Leu1288Val
NM_018263.4:c.3862C>G	NP_060733.4:p.Leu1288Val
XM_006712039.2:c.3496C>G	XP_006712102.1:p.Leu1166Val
XM_006712040.1:c.3082C>G	XP_006712103.1:p.Leu1028Val
XM_011532950.1:c.3859C>G	XP_011531252.1:p.Leu1287Val
XM_011532951.1:c.3688C>G	XP_011531253.1:p.Leu1230Val
NM_018263.5:c.3862C>G	NP_060733.4:p.Leu1288Val
XM_006712039.3:c.3496C>G	XP_006712102.1:p.Leu1166Val
XM_006712040.2:c.3082C>G	XP_006712103.1:p.Leu1028Val
XM_011532950.3:c.3859C>G	XP_011531252.1:p.Leu1287Val
XM_011532951.2:c.3688C>G	XP_011531253.1:p.Leu1230Val
XM_017004430.1:c.3082C>G	XP_016859919.1:p.Leu1028Val
XM_024452974.1:c.4042C>G	XP_024308742.1:p.Leu1348Val
NM_001369346.1:c.3688C>G	NP_001356275.1:p.Leu1230Val
NM_001369347.1:c.3082C>G	NP_001356276.1:p.Leu1028Val
NM_018263.6:c.3862C>G MANE Select	NP_060733.4:p.Leu1288Val