Canonical Allele Identifier: CA346074915

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742366-C-G
• MyVariant Identifiers: chr2:g.25965235C>G (hg19) ; chr2:g.25742366C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742366C>G , CM000664.2:g.25742366C>G	GRCh38
NC_000002.11:g.25965235C>G , CM000664.1:g.25965235C>G	GRCh37
NC_000002.10:g.25818739C>G	NCBI36
NG_052995.1:g.141151G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3968G>C	ENSP00000337250.5:p.Gly1323Ala
ENST00000435504.9:c.3971G>C MANE Select	ENSP00000391447.3:p.Gly1324Ala
ENST00000336112.8:c.3887G>C	ENSP00000337250.4:p.Gly1296Ala
ENST00000404843.5:c.2420G>C	ENSP00000383920.1:p.Gly807Ala
ENST00000435504.8:c.3971G>C	ENSP00000391447.3:p.Gly1324Ala
NM_018263.4:c.3971G>C	NP_060733.4:p.Gly1324Ala
XM_006712039.2:c.3605G>C	XP_006712102.1:p.Gly1202Ala
XM_006712040.1:c.3191G>C	XP_006712103.1:p.Gly1064Ala
XM_011532950.1:c.3968G>C	XP_011531252.1:p.Gly1323Ala
XM_011532951.1:c.3797G>C	XP_011531253.1:p.Gly1266Ala
NM_018263.5:c.3971G>C	NP_060733.4:p.Gly1324Ala
XM_006712039.3:c.3605G>C	XP_006712102.1:p.Gly1202Ala
XM_006712040.2:c.3191G>C	XP_006712103.1:p.Gly1064Ala
XM_011532950.3:c.3968G>C	XP_011531252.1:p.Gly1323Ala
XM_011532951.2:c.3797G>C	XP_011531253.1:p.Gly1266Ala
XM_017004430.1:c.3191G>C	XP_016859919.1:p.Gly1064Ala
XM_024452974.1:c.4151G>C	XP_024308742.1:p.Gly1384Ala
NM_001369346.1:c.3797G>C	NP_001356275.1:p.Gly1266Ala
NM_001369347.1:c.3191G>C	NP_001356276.1:p.Gly1064Ala
NM_018263.6:c.3971G>C MANE Select	NP_060733.4:p.Gly1324Ala