Canonical Allele Identifier: CA1557417

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 2071249
• ClinVar RCV Id: RCV002949259 ; RCV003274108 ; RCV003936463
• dbSNP Id: rs200059955
• ExAC: 2:25965376 A / G
• gnomAD v2: 2-25965376-A-G
• gnomAD v3: 2-25742507-A-G
• gnomAD v4: 2-25742507-A-G
• MyVariant Identifiers: chr2:g.25965376A>G (hg19) ; chr2:g.25742507A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742507A>G , CM000664.2:g.25742507A>G	GRCh38
NC_000002.11:g.25965376A>G , CM000664.1:g.25965376A>G	GRCh37
NC_000002.10:g.25818880A>G	NCBI36
NG_052995.1:g.141010T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3827T>C	ENSP00000337250.5:p.Val1276Ala
ENST00000435504.9:c.3830T>C MANE Select	ENSP00000391447.3:p.Val1277Ala
ENST00000336112.8:c.3746T>C	ENSP00000337250.4:p.Val1249Ala
ENST00000404843.5:c.2279T>C	ENSP00000383920.1:p.Val760Ala
ENST00000435504.8:c.3830T>C	ENSP00000391447.3:p.Val1277Ala
NM_018263.4:c.3830T>C	NP_060733.4:p.Val1277Ala
XM_006712039.2:c.3464T>C	XP_006712102.1:p.Val1155Ala
XM_006712040.1:c.3050T>C	XP_006712103.1:p.Val1017Ala
XM_011532950.1:c.3827T>C	XP_011531252.1:p.Val1276Ala
XM_011532951.1:c.3656T>C	XP_011531253.1:p.Val1219Ala
NM_018263.5:c.3830T>C	NP_060733.4:p.Val1277Ala
XM_006712039.3:c.3464T>C	XP_006712102.1:p.Val1155Ala
XM_006712040.2:c.3050T>C	XP_006712103.1:p.Val1017Ala
XM_011532950.3:c.3827T>C	XP_011531252.1:p.Val1276Ala
XM_011532951.2:c.3656T>C	XP_011531253.1:p.Val1219Ala
XM_017004430.1:c.3050T>C	XP_016859919.1:p.Val1017Ala
XM_024452974.1:c.4010T>C	XP_024308742.1:p.Val1337Ala
NM_001369346.1:c.3656T>C	NP_001356275.1:p.Val1219Ala
NM_001369347.1:c.3050T>C	NP_001356276.1:p.Val1017Ala
NM_018263.6:c.3830T>C MANE Select	NP_060733.4:p.Val1277Ala