Canonical Allele Identifier: CA346075210

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742411-G-T
• MyVariant Identifiers: chr2:g.25965280G>T (hg19) ; chr2:g.25742411G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742411G>T , CM000664.2:g.25742411G>T	GRCh38
NC_000002.11:g.25965280G>T , CM000664.1:g.25965280G>T	GRCh37
NC_000002.10:g.25818784G>T	NCBI36
NG_052995.1:g.141106C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3923C>A	ENSP00000337250.5:p.Pro1308Gln
ENST00000435504.9:c.3926C>A MANE Select	ENSP00000391447.3:p.Pro1309Gln
ENST00000336112.8:c.3842C>A	ENSP00000337250.4:p.Pro1281Gln
ENST00000404843.5:c.2375C>A	ENSP00000383920.1:p.Pro792Gln
ENST00000435504.8:c.3926C>A	ENSP00000391447.3:p.Pro1309Gln
NM_018263.4:c.3926C>A	NP_060733.4:p.Pro1309Gln
XM_006712039.2:c.3560C>A	XP_006712102.1:p.Pro1187Gln
XM_006712040.1:c.3146C>A	XP_006712103.1:p.Pro1049Gln
XM_011532950.1:c.3923C>A	XP_011531252.1:p.Pro1308Gln
XM_011532951.1:c.3752C>A	XP_011531253.1:p.Pro1251Gln
NM_018263.5:c.3926C>A	NP_060733.4:p.Pro1309Gln
XM_006712039.3:c.3560C>A	XP_006712102.1:p.Pro1187Gln
XM_006712040.2:c.3146C>A	XP_006712103.1:p.Pro1049Gln
XM_011532950.3:c.3923C>A	XP_011531252.1:p.Pro1308Gln
XM_011532951.2:c.3752C>A	XP_011531253.1:p.Pro1251Gln
XM_017004430.1:c.3146C>A	XP_016859919.1:p.Pro1049Gln
XM_024452974.1:c.4106C>A	XP_024308742.1:p.Pro1369Gln
NM_001369346.1:c.3752C>A	NP_001356275.1:p.Pro1251Gln
NM_001369347.1:c.3146C>A	NP_001356276.1:p.Pro1049Gln
NM_018263.6:c.3926C>A MANE Select	NP_060733.4:p.Pro1309Gln