Canonical Allele Identifier: CA1557397

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2184820
• ClinVar RCV Id: RCV002603507
• dbSNP Id: rs534744008
• ExAC: 2:25965288 T / G
• gnomAD v2: 2-25965288-T-G
• gnomAD v3: 2-25742419-T-G
• gnomAD v4: 2-25742419-T-G
• MyVariant Identifiers: chr2:g.25965288T>G (hg19) ; chr2:g.25742419T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742419T>G , CM000664.2:g.25742419T>G	GRCh38
NC_000002.11:g.25965288T>G , CM000664.1:g.25965288T>G	GRCh37
NC_000002.10:g.25818792T>G	NCBI36
NG_052995.1:g.141098A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3915A>C	ENSP00000337250.5:p.Leu1305=
ENST00000435504.9:c.3918A>C MANE Select	ENSP00000391447.3:p.Leu1306=
ENST00000336112.8:c.3834A>C	ENSP00000337250.4:p.Leu1278=
ENST00000404843.5:c.2367A>C	ENSP00000383920.1:p.Leu789=
ENST00000435504.8:c.3918A>C	ENSP00000391447.3:p.Leu1306=
NM_018263.4:c.3918A>C	NP_060733.4:p.Leu1306=
XM_006712039.2:c.3552A>C	XP_006712102.1:p.Leu1184=
XM_006712040.1:c.3138A>C	XP_006712103.1:p.Leu1046=
XM_011532950.1:c.3915A>C	XP_011531252.1:p.Leu1305=
XM_011532951.1:c.3744A>C	XP_011531253.1:p.Leu1248=
NM_018263.5:c.3918A>C	NP_060733.4:p.Leu1306=
XM_006712039.3:c.3552A>C	XP_006712102.1:p.Leu1184=
XM_006712040.2:c.3138A>C	XP_006712103.1:p.Leu1046=
XM_011532950.3:c.3915A>C	XP_011531252.1:p.Leu1305=
XM_011532951.2:c.3744A>C	XP_011531253.1:p.Leu1248=
XM_017004430.1:c.3138A>C	XP_016859919.1:p.Leu1046=
XM_024452974.1:c.4098A>C	XP_024308742.1:p.Leu1366=
NM_001369346.1:c.3744A>C	NP_001356275.1:p.Leu1248=
NM_001369347.1:c.3138A>C	NP_001356276.1:p.Leu1046=
NM_018263.6:c.3918A>C MANE Select	NP_060733.4:p.Leu1306=