Canonical Allele Identifier: CA346073619

Gene: ASXL2

Linked Data

• dbSNP Id: rs2087838661
• gnomAD v3: 2-25742111-A-G
• gnomAD v4: 2-25742111-A-G
• MyVariant Identifiers: chr2:g.25964980A>G (hg19) ; chr2:g.25742111A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742111A>G , CM000664.2:g.25742111A>G	GRCh38
NC_000002.11:g.25964980A>G , CM000664.1:g.25964980A>G	GRCh37
NC_000002.10:g.25818484A>G	NCBI36
NG_052995.1:g.141406T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4223T>C	ENSP00000337250.5:p.Met1408Thr
ENST00000435504.9:c.4226T>C MANE Select	ENSP00000391447.3:p.Met1409Thr
ENST00000336112.8:c.4142T>C	ENSP00000337250.4:p.Met1381Thr
ENST00000404843.5:c.2675T>C	ENSP00000383920.1:p.Met892Thr
ENST00000435504.8:c.4226T>C	ENSP00000391447.3:p.Met1409Thr
NM_018263.4:c.4226T>C	NP_060733.4:p.Met1409Thr
XM_006712039.2:c.3860T>C	XP_006712102.1:p.Met1287Thr
XM_006712040.1:c.3446T>C	XP_006712103.1:p.Met1149Thr
XM_011532950.1:c.4223T>C	XP_011531252.1:p.Met1408Thr
XM_011532951.1:c.4052T>C	XP_011531253.1:p.Met1351Thr
NM_018263.5:c.4226T>C	NP_060733.4:p.Met1409Thr
XM_006712039.3:c.3860T>C	XP_006712102.1:p.Met1287Thr
XM_006712040.2:c.3446T>C	XP_006712103.1:p.Met1149Thr
XM_011532950.3:c.4223T>C	XP_011531252.1:p.Met1408Thr
XM_011532951.2:c.4052T>C	XP_011531253.1:p.Met1351Thr
XM_017004430.1:c.3446T>C	XP_016859919.1:p.Met1149Thr
XM_024452974.1:c.4406T>C	XP_024308742.1:p.Met1469Thr
NM_001369346.1:c.4052T>C	NP_001356275.1:p.Met1351Thr
NM_001369347.1:c.3446T>C	NP_001356276.1:p.Met1149Thr
NM_018263.6:c.4226T>C MANE Select	NP_060733.4:p.Met1409Thr