Canonical Allele Identifier: CA346075576

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742478-C-G
• MyVariant Identifiers: chr2:g.25965347C>G (hg19) ; chr2:g.25742478C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742478C>G , CM000664.2:g.25742478C>G	GRCh38
NC_000002.11:g.25965347C>G , CM000664.1:g.25965347C>G	GRCh37
NC_000002.10:g.25818851C>G	NCBI36
NG_052995.1:g.141039G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3856G>C	ENSP00000337250.5:p.Glu1286Gln
ENST00000435504.9:c.3859G>C MANE Select	ENSP00000391447.3:p.Glu1287Gln
ENST00000336112.8:c.3775G>C	ENSP00000337250.4:p.Glu1259Gln
ENST00000404843.5:c.2308G>C	ENSP00000383920.1:p.Glu770Gln
ENST00000435504.8:c.3859G>C	ENSP00000391447.3:p.Glu1287Gln
NM_018263.4:c.3859G>C	NP_060733.4:p.Glu1287Gln
XM_006712039.2:c.3493G>C	XP_006712102.1:p.Glu1165Gln
XM_006712040.1:c.3079G>C	XP_006712103.1:p.Glu1027Gln
XM_011532950.1:c.3856G>C	XP_011531252.1:p.Glu1286Gln
XM_011532951.1:c.3685G>C	XP_011531253.1:p.Glu1229Gln
NM_018263.5:c.3859G>C	NP_060733.4:p.Glu1287Gln
XM_006712039.3:c.3493G>C	XP_006712102.1:p.Glu1165Gln
XM_006712040.2:c.3079G>C	XP_006712103.1:p.Glu1027Gln
XM_011532950.3:c.3856G>C	XP_011531252.1:p.Glu1286Gln
XM_011532951.2:c.3685G>C	XP_011531253.1:p.Glu1229Gln
XM_017004430.1:c.3079G>C	XP_016859919.1:p.Glu1027Gln
XM_024452974.1:c.4039G>C	XP_024308742.1:p.Glu1347Gln
NM_001369346.1:c.3685G>C	NP_001356275.1:p.Glu1229Gln
NM_001369347.1:c.3079G>C	NP_001356276.1:p.Glu1027Gln
NM_018263.6:c.3859G>C MANE Select	NP_060733.4:p.Glu1287Gln