Canonical Allele Identifier: CA43734223

Gene: ASXL2

Linked Data

• dbSNP Id: rs986882403
• gnomAD v4: 2-25742321-A-G
• MyVariant Identifiers: chr2:g.25965190A>G (hg19) ; chr2:g.25742321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742321A>G , CM000664.2:g.25742321A>G	GRCh38
NC_000002.11:g.25965190A>G , CM000664.1:g.25965190A>G	GRCh37
NC_000002.10:g.25818694A>G	NCBI36
NG_052995.1:g.141196T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4013T>C	ENSP00000337250.5:p.Met1338Thr
ENST00000435504.9:c.4016T>C MANE Select	ENSP00000391447.3:p.Met1339Thr
ENST00000336112.8:c.3932T>C	ENSP00000337250.4:p.Met1311Thr
ENST00000404843.5:c.2465T>C	ENSP00000383920.1:p.Met822Thr
ENST00000435504.8:c.4016T>C	ENSP00000391447.3:p.Met1339Thr
NM_018263.4:c.4016T>C	NP_060733.4:p.Met1339Thr
XM_006712039.2:c.3650T>C	XP_006712102.1:p.Met1217Thr
XM_006712040.1:c.3236T>C	XP_006712103.1:p.Met1079Thr
XM_011532950.1:c.4013T>C	XP_011531252.1:p.Met1338Thr
XM_011532951.1:c.3842T>C	XP_011531253.1:p.Met1281Thr
NM_018263.5:c.4016T>C	NP_060733.4:p.Met1339Thr
XM_006712039.3:c.3650T>C	XP_006712102.1:p.Met1217Thr
XM_006712040.2:c.3236T>C	XP_006712103.1:p.Met1079Thr
XM_011532950.3:c.4013T>C	XP_011531252.1:p.Met1338Thr
XM_011532951.2:c.3842T>C	XP_011531253.1:p.Met1281Thr
XM_017004430.1:c.3236T>C	XP_016859919.1:p.Met1079Thr
XM_024452974.1:c.4196T>C	XP_024308742.1:p.Met1399Thr
NM_001369346.1:c.3842T>C	NP_001356275.1:p.Met1281Thr
NM_001369347.1:c.3236T>C	NP_001356276.1:p.Met1079Thr
NM_018263.6:c.4016T>C MANE Select	NP_060733.4:p.Met1339Thr