Canonical Allele Identifier: CA43734237

Gene: ASXL2

Linked Data

• dbSNP Id: rs955754916
• MyVariant Identifiers: chr2:g.25965216C>T (hg19) ; chr2:g.25742347C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.25742347C>T , CM000664.2:g.25742347C>T	GRCh38
NC_000002.11:g.25965216C>T , CM000664.1:g.25965216C>T	GRCh37
NC_000002.10:g.25818720C>T	NCBI36
NG_052995.1:g.141170G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000336112.9:c.3987G>A	ENSP00000337250.5:p.Met1329Ile
ENST00000435504.9:c.3990G>A MANE Select	ENSP00000391447.3:p.Met1330Ile
ENST00000336112.8:c.3906G>A	ENSP00000337250.4:p.Met1302Ile
ENST00000404843.5:c.2439G>A	ENSP00000383920.1:p.Met813Ile
ENST00000435504.8:c.3990G>A	ENSP00000391447.3:p.Met1330Ile
NM_018263.4:c.3990G>A	NP_060733.4:p.Met1330Ile
XM_006712039.2:c.3624G>A	XP_006712102.1:p.Met1208Ile
XM_006712040.1:c.3210G>A	XP_006712103.1:p.Met1070Ile
XM_011532950.1:c.3987G>A	XP_011531252.1:p.Met1329Ile
XM_011532951.1:c.3816G>A	XP_011531253.1:p.Met1272Ile
NM_018263.5:c.3990G>A	NP_060733.4:p.Met1330Ile
XM_006712039.3:c.3624G>A	XP_006712102.1:p.Met1208Ile
XM_006712040.2:c.3210G>A	XP_006712103.1:p.Met1070Ile
XM_011532950.3:c.3987G>A	XP_011531252.1:p.Met1329Ile
XM_011532951.2:c.3816G>A	XP_011531253.1:p.Met1272Ile
XM_017004430.1:c.3210G>A	XP_016859919.1:p.Met1070Ile
XM_024452974.1:c.4170G>A	XP_024308742.1:p.Met1390Ile
NM_001369346.1:c.3816G>A	NP_001356275.1:p.Met1272Ile
NM_001369347.1:c.3210G>A	NP_001356276.1:p.Met1070Ile
NM_018263.6:c.3990G>A MANE Select	NP_060733.4:p.Met1330Ile