Canonical Allele Identifier: CA346075238

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742418-G-C
• MyVariant Identifiers: chr2:g.25965287G>C (hg19) ; chr2:g.25742418G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742418G>C , CM000664.2:g.25742418G>C	GRCh38
NC_000002.11:g.25965287G>C , CM000664.1:g.25965287G>C	GRCh37
NC_000002.10:g.25818791G>C	NCBI36
NG_052995.1:g.141099C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3916C>G	ENSP00000337250.5:p.Leu1306Val
ENST00000435504.9:c.3919C>G MANE Select	ENSP00000391447.3:p.Leu1307Val
ENST00000336112.8:c.3835C>G	ENSP00000337250.4:p.Leu1279Val
ENST00000404843.5:c.2368C>G	ENSP00000383920.1:p.Leu790Val
ENST00000435504.8:c.3919C>G	ENSP00000391447.3:p.Leu1307Val
NM_018263.4:c.3919C>G	NP_060733.4:p.Leu1307Val
XM_006712039.2:c.3553C>G	XP_006712102.1:p.Leu1185Val
XM_006712040.1:c.3139C>G	XP_006712103.1:p.Leu1047Val
XM_011532950.1:c.3916C>G	XP_011531252.1:p.Leu1306Val
XM_011532951.1:c.3745C>G	XP_011531253.1:p.Leu1249Val
NM_018263.5:c.3919C>G	NP_060733.4:p.Leu1307Val
XM_006712039.3:c.3553C>G	XP_006712102.1:p.Leu1185Val
XM_006712040.2:c.3139C>G	XP_006712103.1:p.Leu1047Val
XM_011532950.3:c.3916C>G	XP_011531252.1:p.Leu1306Val
XM_011532951.2:c.3745C>G	XP_011531253.1:p.Leu1249Val
XM_017004430.1:c.3139C>G	XP_016859919.1:p.Leu1047Val
XM_024452974.1:c.4099C>G	XP_024308742.1:p.Leu1367Val
NM_001369346.1:c.3745C>G	NP_001356275.1:p.Leu1249Val
NM_001369347.1:c.3139C>G	NP_001356276.1:p.Leu1047Val
NM_018263.6:c.3919C>G MANE Select	NP_060733.4:p.Leu1307Val