Canonical Allele Identifier: CA1557359

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2300415
• ClinVar RCV Id: RCV002882859
• dbSNP Id: rs373233840
• ExAC: 2:25965089 T / C
• gnomAD v2: 2-25965089-T-C
• gnomAD v3: 2-25742220-T-C
• gnomAD v4: 2-25742220-T-C
• MyVariant Identifiers: chr2:g.25965089T>C (hg19) ; chr2:g.25742220T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742220T>C , CM000664.2:g.25742220T>C	GRCh38
NC_000002.11:g.25965089T>C , CM000664.1:g.25965089T>C	GRCh37
NC_000002.10:g.25818593T>C	NCBI36
NG_052995.1:g.141297A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4114A>G	ENSP00000337250.5:p.Met1372Val
ENST00000435504.9:c.4117A>G MANE Select	ENSP00000391447.3:p.Met1373Val
ENST00000336112.8:c.4033A>G	ENSP00000337250.4:p.Met1345Val
ENST00000404843.5:c.2566A>G	ENSP00000383920.1:p.Met856Val
ENST00000435504.8:c.4117A>G	ENSP00000391447.3:p.Met1373Val
NM_018263.4:c.4117A>G	NP_060733.4:p.Met1373Val
XM_006712039.2:c.3751A>G	XP_006712102.1:p.Met1251Val
XM_006712040.1:c.3337A>G	XP_006712103.1:p.Met1113Val
XM_011532950.1:c.4114A>G	XP_011531252.1:p.Met1372Val
XM_011532951.1:c.3943A>G	XP_011531253.1:p.Met1315Val
NM_018263.5:c.4117A>G	NP_060733.4:p.Met1373Val
XM_006712039.3:c.3751A>G	XP_006712102.1:p.Met1251Val
XM_006712040.2:c.3337A>G	XP_006712103.1:p.Met1113Val
XM_011532950.3:c.4114A>G	XP_011531252.1:p.Met1372Val
XM_011532951.2:c.3943A>G	XP_011531253.1:p.Met1315Val
XM_017004430.1:c.3337A>G	XP_016859919.1:p.Met1113Val
XM_024452974.1:c.4297A>G	XP_024308742.1:p.Met1433Val
NM_001369346.1:c.3943A>G	NP_001356275.1:p.Met1315Val
NM_001369347.1:c.3337A>G	NP_001356276.1:p.Met1113Val
NM_018263.6:c.4117A>G MANE Select	NP_060733.4:p.Met1373Val