Canonical Allele Identifier: CA346076110

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742556-G-C
• MyVariant Identifiers: chr2:g.25965425G>C (hg19) ; chr2:g.25742556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742556G>C , CM000664.2:g.25742556G>C	GRCh38
NC_000002.11:g.25965425G>C , CM000664.1:g.25965425G>C	GRCh37
NC_000002.10:g.25818929G>C	NCBI36
NG_052995.1:g.140961C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3778C>G	ENSP00000337250.5:p.Leu1260Val
ENST00000435504.9:c.3781C>G MANE Select	ENSP00000391447.3:p.Leu1261Val
ENST00000336112.8:c.3697C>G	ENSP00000337250.4:p.Leu1233Val
ENST00000404843.5:c.2230C>G	ENSP00000383920.1:p.Leu744Val
ENST00000435504.8:c.3781C>G	ENSP00000391447.3:p.Leu1261Val
NM_018263.4:c.3781C>G	NP_060733.4:p.Leu1261Val
XM_006712039.2:c.3415C>G	XP_006712102.1:p.Leu1139Val
XM_006712040.1:c.3001C>G	XP_006712103.1:p.Leu1001Val
XM_011532950.1:c.3778C>G	XP_011531252.1:p.Leu1260Val
XM_011532951.1:c.3607C>G	XP_011531253.1:p.Leu1203Val
NM_018263.5:c.3781C>G	NP_060733.4:p.Leu1261Val
XM_006712039.3:c.3415C>G	XP_006712102.1:p.Leu1139Val
XM_006712040.2:c.3001C>G	XP_006712103.1:p.Leu1001Val
XM_011532950.3:c.3778C>G	XP_011531252.1:p.Leu1260Val
XM_011532951.2:c.3607C>G	XP_011531253.1:p.Leu1203Val
XM_017004430.1:c.3001C>G	XP_016859919.1:p.Leu1001Val
XM_024452974.1:c.3961C>G	XP_024308742.1:p.Leu1321Val
NM_001369346.1:c.3607C>G	NP_001356275.1:p.Leu1203Val
NM_001369347.1:c.3001C>G	NP_001356276.1:p.Leu1001Val
NM_018263.6:c.3781C>G MANE Select	NP_060733.4:p.Leu1261Val