Canonical Allele Identifier: CA346075329

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2608912
• ClinVar RCV Id: RCV003357908
• gnomAD v4: 2-25742433-T-C
• MyVariant Identifiers: chr2:g.25965302T>C (hg19) ; chr2:g.25742433T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742433T>C , CM000664.2:g.25742433T>C	GRCh38
NC_000002.11:g.25965302T>C , CM000664.1:g.25965302T>C	GRCh37
NC_000002.10:g.25818806T>C	NCBI36
NG_052995.1:g.141084A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3901A>G	ENSP00000337250.5:p.Thr1301Ala
ENST00000435504.9:c.3904A>G MANE Select	ENSP00000391447.3:p.Thr1302Ala
ENST00000336112.8:c.3820A>G	ENSP00000337250.4:p.Thr1274Ala
ENST00000404843.5:c.2353A>G	ENSP00000383920.1:p.Thr785Ala
ENST00000435504.8:c.3904A>G	ENSP00000391447.3:p.Thr1302Ala
NM_018263.4:c.3904A>G	NP_060733.4:p.Thr1302Ala
XM_006712039.2:c.3538A>G	XP_006712102.1:p.Thr1180Ala
XM_006712040.1:c.3124A>G	XP_006712103.1:p.Thr1042Ala
XM_011532950.1:c.3901A>G	XP_011531252.1:p.Thr1301Ala
XM_011532951.1:c.3730A>G	XP_011531253.1:p.Thr1244Ala
NM_018263.5:c.3904A>G	NP_060733.4:p.Thr1302Ala
XM_006712039.3:c.3538A>G	XP_006712102.1:p.Thr1180Ala
XM_006712040.2:c.3124A>G	XP_006712103.1:p.Thr1042Ala
XM_011532950.3:c.3901A>G	XP_011531252.1:p.Thr1301Ala
XM_011532951.2:c.3730A>G	XP_011531253.1:p.Thr1244Ala
XM_017004430.1:c.3124A>G	XP_016859919.1:p.Thr1042Ala
XM_024452974.1:c.4084A>G	XP_024308742.1:p.Thr1362Ala
NM_001369346.1:c.3730A>G	NP_001356275.1:p.Thr1244Ala
NM_001369347.1:c.3124A>G	NP_001356276.1:p.Thr1042Ala
NM_018263.6:c.3904A>G MANE Select	NP_060733.4:p.Thr1302Ala