Canonical Allele Identifier: CA43734318

Gene: ASXL2

Linked Data

• dbSNP Id: rs955113689
• MyVariant Identifiers: chr2:g.25965386C>G (hg19) ; chr2:g.25742517C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742517C>G , CM000664.2:g.25742517C>G	GRCh38
NC_000002.11:g.25965386C>G , CM000664.1:g.25965386C>G	GRCh37
NC_000002.10:g.25818890C>G	NCBI36
NG_052995.1:g.141000G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3817G>C	ENSP00000337250.5:p.Ala1273Pro
ENST00000435504.9:c.3820G>C MANE Select	ENSP00000391447.3:p.Ala1274Pro
ENST00000336112.8:c.3736G>C	ENSP00000337250.4:p.Ala1246Pro
ENST00000404843.5:c.2269G>C	ENSP00000383920.1:p.Ala757Pro
ENST00000435504.8:c.3820G>C	ENSP00000391447.3:p.Ala1274Pro
NM_018263.4:c.3820G>C	NP_060733.4:p.Ala1274Pro
XM_006712039.2:c.3454G>C	XP_006712102.1:p.Ala1152Pro
XM_006712040.1:c.3040G>C	XP_006712103.1:p.Ala1014Pro
XM_011532950.1:c.3817G>C	XP_011531252.1:p.Ala1273Pro
XM_011532951.1:c.3646G>C	XP_011531253.1:p.Ala1216Pro
NM_018263.5:c.3820G>C	NP_060733.4:p.Ala1274Pro
XM_006712039.3:c.3454G>C	XP_006712102.1:p.Ala1152Pro
XM_006712040.2:c.3040G>C	XP_006712103.1:p.Ala1014Pro
XM_011532950.3:c.3817G>C	XP_011531252.1:p.Ala1273Pro
XM_011532951.2:c.3646G>C	XP_011531253.1:p.Ala1216Pro
XM_017004430.1:c.3040G>C	XP_016859919.1:p.Ala1014Pro
XM_024452974.1:c.4000G>C	XP_024308742.1:p.Ala1334Pro
NM_001369346.1:c.3646G>C	NP_001356275.1:p.Ala1216Pro
NM_001369347.1:c.3040G>C	NP_001356276.1:p.Ala1014Pro
NM_018263.6:c.3820G>C MANE Select	NP_060733.4:p.Ala1274Pro