Canonical Allele Identifier: CA43734296

Gene: ASXL2

Linked Data

• dbSNP Id: rs910114091
• MyVariant Identifiers: chr2:g.25965329C>G (hg19) ; chr2:g.25742460C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742460C>G , CM000664.2:g.25742460C>G	GRCh38
NC_000002.11:g.25965329C>G , CM000664.1:g.25965329C>G	GRCh37
NC_000002.10:g.25818833C>G	NCBI36
NG_052995.1:g.141057G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3874G>C	ENSP00000337250.5:p.Val1292Leu
ENST00000435504.9:c.3877G>C MANE Select	ENSP00000391447.3:p.Val1293Leu
ENST00000336112.8:c.3793G>C	ENSP00000337250.4:p.Val1265Leu
ENST00000404843.5:c.2326G>C	ENSP00000383920.1:p.Val776Leu
ENST00000435504.8:c.3877G>C	ENSP00000391447.3:p.Val1293Leu
NM_018263.4:c.3877G>C	NP_060733.4:p.Val1293Leu
XM_006712039.2:c.3511G>C	XP_006712102.1:p.Val1171Leu
XM_006712040.1:c.3097G>C	XP_006712103.1:p.Val1033Leu
XM_011532950.1:c.3874G>C	XP_011531252.1:p.Val1292Leu
XM_011532951.1:c.3703G>C	XP_011531253.1:p.Val1235Leu
NM_018263.5:c.3877G>C	NP_060733.4:p.Val1293Leu
XM_006712039.3:c.3511G>C	XP_006712102.1:p.Val1171Leu
XM_006712040.2:c.3097G>C	XP_006712103.1:p.Val1033Leu
XM_011532950.3:c.3874G>C	XP_011531252.1:p.Val1292Leu
XM_011532951.2:c.3703G>C	XP_011531253.1:p.Val1235Leu
XM_017004430.1:c.3097G>C	XP_016859919.1:p.Val1033Leu
XM_024452974.1:c.4057G>C	XP_024308742.1:p.Val1353Leu
NM_001369346.1:c.3703G>C	NP_001356275.1:p.Val1235Leu
NM_001369347.1:c.3097G>C	NP_001356276.1:p.Val1033Leu
NM_018263.6:c.3877G>C MANE Select	NP_060733.4:p.Val1293Leu