Canonical Allele Identifier: CA346073699

Gene: ASXL2

Linked Data

• MyVariant Identifiers: chr2:g.25965016G>A (hg19) ; chr2:g.25742147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742147G>A , CM000664.2:g.25742147G>A	GRCh38
NC_000002.11:g.25965016G>A , CM000664.1:g.25965016G>A	GRCh37
NC_000002.10:g.25818520G>A	NCBI36
NG_052995.1:g.141370C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.4187C>T	ENSP00000337250.5:p.Pro1396Leu
ENST00000435504.9:c.4190C>T MANE Select	ENSP00000391447.3:p.Pro1397Leu
ENST00000336112.8:c.4106C>T	ENSP00000337250.4:p.Pro1369Leu
ENST00000404843.5:c.2639C>T	ENSP00000383920.1:p.Pro880Leu
ENST00000435504.8:c.4190C>T	ENSP00000391447.3:p.Pro1397Leu
NM_018263.4:c.4190C>T	NP_060733.4:p.Pro1397Leu
XM_006712039.2:c.3824C>T	XP_006712102.1:p.Pro1275Leu
XM_006712040.1:c.3410C>T	XP_006712103.1:p.Pro1137Leu
XM_011532950.1:c.4187C>T	XP_011531252.1:p.Pro1396Leu
XM_011532951.1:c.4016C>T	XP_011531253.1:p.Pro1339Leu
NM_018263.5:c.4190C>T	NP_060733.4:p.Pro1397Leu
XM_006712039.3:c.3824C>T	XP_006712102.1:p.Pro1275Leu
XM_006712040.2:c.3410C>T	XP_006712103.1:p.Pro1137Leu
XM_011532950.3:c.4187C>T	XP_011531252.1:p.Pro1396Leu
XM_011532951.2:c.4016C>T	XP_011531253.1:p.Pro1339Leu
XM_017004430.1:c.3410C>T	XP_016859919.1:p.Pro1137Leu
XM_024452974.1:c.4370C>T	XP_024308742.1:p.Pro1457Leu
NM_001369346.1:c.4016C>T	NP_001356275.1:p.Pro1339Leu
NM_001369347.1:c.3410C>T	NP_001356276.1:p.Pro1137Leu
NM_018263.6:c.4190C>T MANE Select	NP_060733.4:p.Pro1397Leu