Canonical Allele Identifier: CA346073451

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742037-C-G
• MyVariant Identifiers: chr2:g.25964906C>G (hg19) ; chr2:g.25742037C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742037C>G , CM000664.2:g.25742037C>G	GRCh38
NC_000002.11:g.25964906C>G , CM000664.1:g.25964906C>G	GRCh37
NC_000002.10:g.25818410C>G	NCBI36
NG_052995.1:g.141480G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4297G>C	ENSP00000337250.5:p.Val1433Leu
ENST00000435504.9:c.4300G>C MANE Select	ENSP00000391447.3:p.Val1434Leu
ENST00000336112.8:c.4216G>C	ENSP00000337250.4:p.Val1406Leu
ENST00000404843.5:c.2749G>C	ENSP00000383920.1:p.Val917Leu
ENST00000435504.8:c.4300G>C	ENSP00000391447.3:p.Val1434Leu
NM_018263.4:c.4300G>C	NP_060733.4:p.Val1434Leu
XM_006712039.2:c.3934G>C	XP_006712102.1:p.Val1312Leu
XM_006712040.1:c.3520G>C	XP_006712103.1:p.Val1174Leu
XM_011532950.1:c.4297G>C	XP_011531252.1:p.Val1433Leu
XM_011532951.1:c.4126G>C	XP_011531253.1:p.Val1376Leu
NM_018263.5:c.4300G>C	NP_060733.4:p.Val1434Leu
XM_006712039.3:c.3934G>C	XP_006712102.1:p.Val1312Leu
XM_006712040.2:c.3520G>C	XP_006712103.1:p.Val1174Leu
XM_011532950.3:c.4297G>C	XP_011531252.1:p.Val1433Leu
XM_011532951.2:c.4126G>C	XP_011531253.1:p.Val1376Leu
XM_017004430.1:c.3520G>C	XP_016859919.1:p.Val1174Leu
XM_024452974.1:c.4480G>C	XP_024308742.1:p.Val1494Leu
NM_001369346.1:c.4126G>C	NP_001356275.1:p.Val1376Leu
NM_001369347.1:c.3520G>C	NP_001356276.1:p.Val1174Leu
NM_018263.6:c.4300G>C MANE Select	NP_060733.4:p.Val1434Leu