Canonical Allele Identifier: CA346075832

Gene: ASXL2

Linked Data

• dbSNP Id: rs955113689
• gnomAD v2: 2-25965386-C-A
• gnomAD v4: 2-25742517-C-A
• MyVariant Identifiers: chr2:g.25965386C>A (hg19) ; chr2:g.25742517C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3817G>T	ENSP00000337250.5:p.Ala1273Ser
ENST00000435504.9:c.3820G>T MANE Select	ENSP00000391447.3:p.Ala1274Ser
ENST00000336112.8:c.3736G>T	ENSP00000337250.4:p.Ala1246Ser
ENST00000404843.5:c.2269G>T	ENSP00000383920.1:p.Ala757Ser
ENST00000435504.8:c.3820G>T	ENSP00000391447.3:p.Ala1274Ser
NM_018263.4:c.3820G>T	NP_060733.4:p.Ala1274Ser
XM_006712039.2:c.3454G>T	XP_006712102.1:p.Ala1152Ser
XM_006712040.1:c.3040G>T	XP_006712103.1:p.Ala1014Ser
XM_011532950.1:c.3817G>T	XP_011531252.1:p.Ala1273Ser
XM_011532951.1:c.3646G>T	XP_011531253.1:p.Ala1216Ser
NM_018263.5:c.3820G>T	NP_060733.4:p.Ala1274Ser
XM_006712039.3:c.3454G>T	XP_006712102.1:p.Ala1152Ser
XM_006712040.2:c.3040G>T	XP_006712103.1:p.Ala1014Ser
XM_011532950.3:c.3817G>T	XP_011531252.1:p.Ala1273Ser
XM_011532951.2:c.3646G>T	XP_011531253.1:p.Ala1216Ser
XM_017004430.1:c.3040G>T	XP_016859919.1:p.Ala1014Ser
XM_024452974.1:c.4000G>T	XP_024308742.1:p.Ala1334Ser
NM_001369346.1:c.3646G>T	NP_001356275.1:p.Ala1216Ser
NM_001369347.1:c.3040G>T	NP_001356276.1:p.Ala1014Ser
NM_018263.6:c.3820G>T MANE Select	NP_060733.4:p.Ala1274Ser