Canonical Allele Identifier: CA346073532

Gene: ASXL2

Linked Data

• ClinVar Variation Id: 3066241
• ClinVar RCV Id: RCV003991245
• MyVariant Identifiers: chr2:g.25964944C>G (hg19) ; chr2:g.25742075C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742075C>G , CM000664.2:g.25742075C>G	GRCh38
NC_000002.11:g.25964944C>G , CM000664.1:g.25964944C>G	GRCh37
NC_000002.10:g.25818448C>G	NCBI36
NG_052995.1:g.141442G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4259G>C	ENSP00000337250.5:p.Cys1420Ser
ENST00000435504.9:c.4262G>C MANE Select	ENSP00000391447.3:p.Cys1421Ser
ENST00000336112.8:c.4178G>C	ENSP00000337250.4:p.Cys1393Ser
ENST00000404843.5:c.2711G>C	ENSP00000383920.1:p.Cys904Ser
ENST00000435504.8:c.4262G>C	ENSP00000391447.3:p.Cys1421Ser
NM_018263.4:c.4262G>C	NP_060733.4:p.Cys1421Ser
XM_006712039.2:c.3896G>C	XP_006712102.1:p.Cys1299Ser
XM_006712040.1:c.3482G>C	XP_006712103.1:p.Cys1161Ser
XM_011532950.1:c.4259G>C	XP_011531252.1:p.Cys1420Ser
XM_011532951.1:c.4088G>C	XP_011531253.1:p.Cys1363Ser
NM_018263.5:c.4262G>C	NP_060733.4:p.Cys1421Ser
XM_006712039.3:c.3896G>C	XP_006712102.1:p.Cys1299Ser
XM_006712040.2:c.3482G>C	XP_006712103.1:p.Cys1161Ser
XM_011532950.3:c.4259G>C	XP_011531252.1:p.Cys1420Ser
XM_011532951.2:c.4088G>C	XP_011531253.1:p.Cys1363Ser
XM_017004430.1:c.3482G>C	XP_016859919.1:p.Cys1161Ser
XM_024452974.1:c.4442G>C	XP_024308742.1:p.Cys1481Ser
NM_001369346.1:c.4088G>C	NP_001356275.1:p.Cys1363Ser
NM_001369347.1:c.3482G>C	NP_001356276.1:p.Cys1161Ser
NM_018263.6:c.4262G>C MANE Select	NP_060733.4:p.Cys1421Ser