Canonical Allele Identifier: CA1557393

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2613394
• ClinVar RCV Id: RCV003362326 ; RCV003778050
• dbSNP Id: rs570805684
• ExAC: 2:25965265 G / A
• gnomAD v2: 2-25965265-G-A
• gnomAD v3: 2-25742396-G-A
• gnomAD v4: 2-25742396-G-A
• MyVariant Identifiers: chr2:g.25965265G>A (hg19) ; chr2:g.25742396G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742396G>A , CM000664.2:g.25742396G>A	GRCh38
NC_000002.11:g.25965265G>A , CM000664.1:g.25965265G>A	GRCh37
NC_000002.10:g.25818769G>A	NCBI36
NG_052995.1:g.141121C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3938C>T	ENSP00000337250.5:p.Pro1313Leu
ENST00000435504.9:c.3941C>T MANE Select	ENSP00000391447.3:p.Pro1314Leu
ENST00000336112.8:c.3857C>T	ENSP00000337250.4:p.Pro1286Leu
ENST00000404843.5:c.2390C>T	ENSP00000383920.1:p.Pro797Leu
ENST00000435504.8:c.3941C>T	ENSP00000391447.3:p.Pro1314Leu
NM_018263.4:c.3941C>T	NP_060733.4:p.Pro1314Leu
XM_006712039.2:c.3575C>T	XP_006712102.1:p.Pro1192Leu
XM_006712040.1:c.3161C>T	XP_006712103.1:p.Pro1054Leu
XM_011532950.1:c.3938C>T	XP_011531252.1:p.Pro1313Leu
XM_011532951.1:c.3767C>T	XP_011531253.1:p.Pro1256Leu
NM_018263.5:c.3941C>T	NP_060733.4:p.Pro1314Leu
XM_006712039.3:c.3575C>T	XP_006712102.1:p.Pro1192Leu
XM_006712040.2:c.3161C>T	XP_006712103.1:p.Pro1054Leu
XM_011532950.3:c.3938C>T	XP_011531252.1:p.Pro1313Leu
XM_011532951.2:c.3767C>T	XP_011531253.1:p.Pro1256Leu
XM_017004430.1:c.3161C>T	XP_016859919.1:p.Pro1054Leu
XM_024452974.1:c.4121C>T	XP_024308742.1:p.Pro1374Leu
NM_001369346.1:c.3767C>T	NP_001356275.1:p.Pro1256Leu
NM_001369347.1:c.3161C>T	NP_001356276.1:p.Pro1054Leu
NM_018263.6:c.3941C>T MANE Select	NP_060733.4:p.Pro1314Leu