Canonical Allele Identifier: CA346075066

Gene: ASXL2

Linked Data

• gnomAD v4: 2-25742389-C-A
• MyVariant Identifiers: chr2:g.25965258C>A (hg19) ; chr2:g.25742389C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742389C>A , CM000664.2:g.25742389C>A	GRCh38
NC_000002.11:g.25965258C>A , CM000664.1:g.25965258C>A	GRCh37
NC_000002.10:g.25818762C>A	NCBI36
NG_052995.1:g.141128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3945G>T	ENSP00000337250.5:p.Leu1315Phe
ENST00000435504.9:c.3948G>T MANE Select	ENSP00000391447.3:p.Leu1316Phe
ENST00000336112.8:c.3864G>T	ENSP00000337250.4:p.Leu1288Phe
ENST00000404843.5:c.2397G>T	ENSP00000383920.1:p.Leu799Phe
ENST00000435504.8:c.3948G>T	ENSP00000391447.3:p.Leu1316Phe
NM_018263.4:c.3948G>T	NP_060733.4:p.Leu1316Phe
XM_006712039.2:c.3582G>T	XP_006712102.1:p.Leu1194Phe
XM_006712040.1:c.3168G>T	XP_006712103.1:p.Leu1056Phe
XM_011532950.1:c.3945G>T	XP_011531252.1:p.Leu1315Phe
XM_011532951.1:c.3774G>T	XP_011531253.1:p.Leu1258Phe
NM_018263.5:c.3948G>T	NP_060733.4:p.Leu1316Phe
XM_006712039.3:c.3582G>T	XP_006712102.1:p.Leu1194Phe
XM_006712040.2:c.3168G>T	XP_006712103.1:p.Leu1056Phe
XM_011532950.3:c.3945G>T	XP_011531252.1:p.Leu1315Phe
XM_011532951.2:c.3774G>T	XP_011531253.1:p.Leu1258Phe
XM_017004430.1:c.3168G>T	XP_016859919.1:p.Leu1056Phe
XM_024452974.1:c.4128G>T	XP_024308742.1:p.Leu1376Phe
NM_001369346.1:c.3774G>T	NP_001356275.1:p.Leu1258Phe
NM_001369347.1:c.3168G>T	NP_001356276.1:p.Leu1056Phe
NM_018263.6:c.3948G>T MANE Select	NP_060733.4:p.Leu1316Phe